
DNA Today: A Genetics Podcast (Kira Dineen)
Explorez tous les épisodes de DNA Today: A Genetics Podcast
Date | Titre | Durée | |
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06 Oct 2014 | #5 Huntington’s Disease | 00:32:32 | |
News stories are reported on about malaria, genetics role in stress and heart conditions, and a new method of identifying and analyzing DNA. Lessons explore Huntington's Disease and genetic testing of Huntington's. Woody Guthrie, a famous American singer-songwriter and folk musician, died from Huntington's. The field of bioinformatics is also explored. | |||
25 Aug 2014 | #1 Google Baseline | 00:28:43 | |
News stories are covered with the most major being the announcement of Google Baseline, a projected aimmed to understand the genetics behind a healthy person. The first International Genetic Genealogy Conference took place August 15-17. A mutated gene has been discovered that allows humans to survive at a high altitude. | |||
13 Oct 2014 | #6 Jackson Laboratories for Genomic Medicine Opening | 00:29:31 | |
The Grand Opening of Jackson Laboratory in Farmington, CT was this past Wednesday, October 8th. In this episode I discuss the presentations and the facility itself from the conference (check out upcoming conferences). The hot areas in genomic medicines mentioned at the symposium are explored such as prenatal and newborn genome sequences as well as ultra-rare genetic diseases. A quick news story on further findings of the breast cancer associated gene, BRCA2 is shared in honor of October being national breast cancer awareness month. | |||
29 Sep 2014 | #4 Schizophrenia, 8 Disorders 9/29/14 | 00:29:29 | |
Search Links edit widget html Tweets Did you know the tumor suppressor #gene, #TP53 is seen in about 50% of #cancers? Did you know it's estimated that 30% of all existing global data is #healthcare related? #bigdata What does role does #genetics play in stress and #heartconditions? I explore the research published: https://t.co/ze3H6LBvHf Biology + computers = #bioinformations. Check out what the field consist of in this podcast episode: https://t.co/983UwN8539 Live NOW > http://t.co/8cwVrcvMQs How many gene #genes are associated with #height? Find out on this #podcast episode: http://t.co/xLU3uoVjYu #TBT 1 year ago > The Grand Opening of @jacksonlab for #Genomic Medicine. My show review of the initial conference: http://t.co/xWKu596ibZ What is the effects of #caffeine on #embryos? I explore on this episode of #DNA today? http://t.co/nlhBXEjNRU Older Follow @DNApodcast post new entry #6 JACKSON LABORATORIES FOR GENOMIC MEDICINE OPENING 10/13/14 DateMONDAY, OCTOBER 13, 2014 AT 01:44PM modify remove organize post follow up The Grand Opening of Jackson Laboratory in Farmington, CT was this past Wednesday, October 8th. In this episode I discuss the presentations and the facility itself from the conference (check out upcoming conferences). The hot areas in genomic medicines mentioned at the symposium are explored such as prenatal and newborn genome sequences as well as ultra-rare genetic diseases. A quick news story on further findings of the breast cancer associated gene, BRCA2 is shared in honor of October being national breast cancer awareness month. Play Episode AuthorECHO STUDIO | CommentPOST A COMMENT | Share ArticleSHARE ARTICLE TAGGED TagJACKSON LABORTARIES IN CategoryFULL EPISODE, CategoryWHUS #5 NEW METHOD OF DNA ANALYSIS 10/6/14 DateMONDAY, OCTOBER 6, 2014 AT 02:26PM modify remove organize post follow up News stories are reported on about malaria, genetics role in stress and heart conditions, and a new method of identifying and analyzing DNA. Lessons explore Huntington's Disease and genetic testing of Huntington's. Woody Guthrie, a famous American singer-songwriter and folk musician, died from Huntington's. The field of bioinformatics is also explored. Play Episode AuthorECHO STUDIO | CommentPOST A COMMENT | Share ArticleSHARE ARTICLE TAGGED TagHUNTINGTON’S DISEASE IN CategoryFULL EPISODE, CategoryWHUS #4 SCHIZOPHRENIA, 8 DISORDERS 9/29/14 DateMONDAY, SEPTEMBER 29, 2014 AT 03:33PM modify remove organize post follow up Dr. John Malone, a professor at UCONN in the Department of Molecular and Cell Biology, presented his research for students which I recap. I plug the grand opening of Jackson Laboratories in Farmington, CT, Jackson Laboratory for Genomic Medicine on October, 8th 2014. Major news story is the new research that Schizophrenia has been revealed to be 8 genetically distinct disorders. Background information on Gregor Mendel is shared. The genetic disorder of the week is Cystic Fibrosis which is explained on the show. | |||
15 Sep 2014 | #3 Can Genetic Manipulations Slow The Aging Process? 9/15/14 | 00:28:02 | |
Researchers may have found a gene that has the power to slow the aging process by targeting specific genes. A method to keep stem cells in their pluripotent state for longer was also discovered. Scientists have claim to idenitify the gene that causes Emery-Dreifuss muscular dystrophy which is an incurable muscle-wasting disease. Feature genetists of the week are the duo James Watson and Francis Crick. Genetic disorder of the week is Down Syndrome. | |||
08 Sep 2014 | #2 Don’t Forget Rosalind Franklin 9/8/14 | 00:29:11 | |
A new inherited neuromuscular disorder has been discovered. Rosalind Franklin's contribution to the discovery of the structure of DNA is explored, her role may be bigger than you think. A lesson of personalized medicine is taught covering the basics of the concept. | |||
20 Oct 2014 | #7 Gene Therapy | 00:26:03 | |
This episode is dedicated to gene therapy. A lesson kicks off the show on gene therapy followed by a presentation of both sides of the debate whether this gene therapy is ethical and worth pursuing as a treatment. Two news stories show the advancements of gene therapy today in research. Discovered a gene mutation that causes rare premature aging disease called dyskeratosis congenita. Long-term treatment success using gene therapy to correct a lethal metabolic disorder has been reached. | |||
27 Oct 2014 | #8 Denise Anamani Interview | 00:29:54 | |
A recap of the pigeon genetics presentation from Mike Shapiro kicks off the show. An interview with Denise Anamani, the Academic Coordinator of Laboratory Education for the students in the Diagnostic Genetic Sciences Program at University of Connecticut. News stories include the epigenetic impact of binge drinking and the number of genes found to be associated with height. | |||
03 Nov 2014 | #9 Dr. Rachel O’Neill Interview | 00:26:40 | |
Dr. Rachel O’Neill is the Director of the Center for Genome Innovation. She is also a professor and head of Genetics and Genomics in the Department of Molecular and Cell Biology at the University of Connecticut. We discuss her laboratory which researches molecular genetic and cytogenetics techniques to study centromere determinance. Dr. O'Neill shares her findings in DNA contamination and species-specific placental development and evolution. She gives insight on how UCONN and Jackson Laboratory is contributing to genetics. Learn more about Dr. Rachel O'Neill and her laboratory on her website, Roneill.lab.uconn.edu. | |||
10 Nov 2014 | #10 Innovations in Cancer Therapy | 00:26:52 | |
A summary of Cornell University's Dr. Andrew Grimson's "The Messenger's Tale: Decoding the 3'UTR" presentation at UCONN starts the show. Highlights from Cleveland Clinic's Medical Innovation Summit are innovations in cancer therapy. New research supports the idea that specific groups of microbes living in our gut could be protective against obesity - and that their abundance is influenced by our genes. A new study finds people with a variant in the CETP gene may survive the longest. | |||
17 Nov 2014 | #11 UCONN Genetic Engineering Team | 00:30:52 | |
Dr. Charles Lee, the scientific director at JAX Genomic Medicine, skyped my genetics class today, so I recap what he shared including the question of mine he answered. Members of the UCONN Genetic Engineering Team join the show. They discuss attending the International Genetically Engineered Machine annual competition. This competition gives students a chance to modify an organism that can help society solve some of the problems facing us today. Join them at their meetings 7pm in the UCONN Student Union room 322. Any questions can be directed to jeffrey.o'brien@uconn.edu or brian.liang@uconn.edu. | |||
24 Nov 2014 | #12 Whole Genome Sequencing | 00:26:14 | |
The event, The Drama of DNA is recapped. It was an enactment of genetic testing sessions and interactive discussion of fictional and real-life drama in the world of genetics. In the news, scientists discover new gene for devastating form of epilepsy. The event and news story both focus on whole genome sequencing. | |||
01 Dec 2014 | #13 New DNA Sequencing Device | 00:27:07 | |
A plant has more foreign DNA, than its own DNA, how is that possible? A new DNA reading device was developed that is a thousands of times smaller than width of a single human hair. How might his change personalized medicine? The effects of caffenine on embryos are explored. | |||
22 Dec 2014 | #15 Mindful DNA | 00:29:09 | |
A study finds meditating cancer patients are able to affect the makeup of their DNA, hear how they are able to do this. Learn about the Klinefelter Syndrome, which is the presence of an extra X chromosome in males. | |||
15 Dec 2014 | #14 Epigenetics | 00:26:40 | |
A lesson on what epigenetics is. A news story reveals that long-term endurance training alters the epigenetic pattern of the human skeletal muscle. Dr. Brian Chadwick, Assistant Professor of Biological Science at Florida State University, presented his research of X chromosome inactivation at UCONN and I give the highlights and share how it relates to epigenetics. | |||
05 Jan 2015 | #16 DNA Goes To Space | 00:28:12 | |
First news story is about research on how genetics can affect the brain and therefore behavior. Another study has been published regarding the mechanism that regulates dopamine levels in the brain, which all comes down to one gene. Last news story is about DNA traveling into space. | |||
12 Jan 2015 | #17 PTSD and Breast Cancer Genes | 00:30:45 | |
All about genes! New study finds gene variants may be a contributor to PTSD. New genes have also been discovered to be linked to triple-negative breast cancer. Scientists have successfully used light to trigger REM sleep in mice. | |||
27 Jan 2015 | #18 New Advances on Fragile X Syndrome | 00:28:17 | |
Researchers have identified a genetic mutation accountable for a metabolic disease among Inuits in northern Canada. New research has provided new insight into fragile X syndrome, learn more about the syndrome at fragileX.org. January is National Birth Defect Month! I go over the CDC's top 10 most common birth deffects in the US. Prevention of birth defects is presented. | |||
02 Feb 2015 | #19 Obama’s Precision Medicine Initiative | 00:26:07 | |
President Barack Obama proposed the Precision Medicine Initiative. It has a $215 million investment in the President’s 2016 Budget. This initiative focuses on the making major advances in personalized medicine. This means tailoring the treatments based on specific characteristics of individuals, such as a person’s genetic makeup, or the genetic profile of an individual’s tumor. | |||
16 Feb 2015 | #20 The Alliance for Aging Research Interview | 00:29:51 | |
This episode features an interview with Noel Lloyd who is the communications manager from the Alliance for Aging Research. The Alliance for Aging Research is the leading nonprofit organization dedicated to accelerating the pace of scientific discoveries and their application to vastly improve the universal human experience of aging and health. Noel explains how the Alliance advances science and enhances lives through education campaigns and working with legislation. You can read the blog post Noel references about Obama's Precision Medicine Initiative that I discussed last episode of DNA Today along with the 21st Century Cures Initiative blog post. Check out the nonprofit on their website, agingresearch.org, and follow their activties on Twitter @aging_research. | |||
19 Feb 2015 | #21 Rare Diseases Day 2015 | 00:33:34 | |
Attend the Rare Diseases Awareness Event 2015 at UCONN Health Center on February 25th. Sophia Walker explains the celebration of individuals who have rare diseases and the many researchers and physicians who are fighting to find cures for these conditions. Listen to patients, doctors, and students share their experiences and learn about rare diseases! Everyone is welcome and the free event is geared towards the general public. Email sowalker@uchc.edu for any questions. Visit rarediseaseday.us, rarediseaseday.org and rarediseases.org for more information. | |||
02 Mar 2015 | #22 Rare Disease Day 2015 | 00:33:33 | |
Presentations at the Rare Disease Day 2015 are recapped. Presentors include Dr. Anton Alerte, Juliet and Tara Lynn, Dr. Caroline Dealy and Ethan Talbot. Check out joshuafrase.org, Favafoundation.org, and rarediseases.org for more information. | |||
23 Mar 2015 | #23 100,000 Genomes Project | 00:25:29 | |
The 100,000 Genomes Project has commenced. Genomics England is heading the project which has plans to sequence 100,000 whole genomes from NHS patients by 2017. This project aims to bring benefit to patients, create an ethical and transparent programme based on consent to enable new scientific discovery and medical insights and kickstart the development of a UK genomics industry. | |||
06 Apr 2015 | #24 DNA of the Dead | 00:26:06 | |
News stories include a very bizarre story about Gabriele D’Annunzio, a dead national war hero whose DNA was reconstructed. New advances in treatments for the most common form of muscular dystrophy, myotonic dystrophy. The last story is about a biotech company, GenomeNext, that has achieved analyzing genomes at the speed of 1,000 per day. | |||
13 Apr 2015 | #25 Interview with Cancer Hereditary Experts | 00:28:29 | |
Georgia Hurst (@ShewithLynch), Amy Byer Shainman (@BRCAresponder), and Ellen Matloff (@MyGeneCounsel) are involved in raising awareness for Hereditary Cancer by holding the #Hcchats (@Hc_chat) on Twitter. You can catch the next Tweetchat April 29th at 9pm ET with special guest Dr. Sharon Bober (@DrSharonBober), an expert in sex after Oophorectomy or Hysterectomy. Georgia Hurst shares her and her family's experience having Lynch Syndrome and how she started her non-profit, IHaveLynchSyndrome.com. Amy Byer Shainman describes her documentary, Pink and Blue, and being a BRCA1 positive previvor. Ellen T. Matloff is the President and CEO of MyGeneCounsel and shares her insight on the importance of understanding genetic testing and genetic counseling and we all weigh in on Angelina Jolie's impact on both. | |||
25 May 2015 | #27 Interview with Dr. Jonathan Klassen | 00:31:03 | |
Dr. Klassen shares his research with fungus-growing ant symbiosis to understand how microbial interaction evolves. He explains how relevant genetics is in his research as well as other research he has done involving gene fragmentation, phylogenetic analysis and drafting genome sequences. We discuss how genome sequencing works and how the technology has advanced in the last 10 years. The device we refer to in the episode is seen below! He explains what students can expect in his spring 2015 Microbial Genomics course (MCB 3895-004). Dr. Klassen is an Assistant Professor at UCONN. He received his PhD in Microbiology and Biotechnology, University of Alberta and his Postdoctoral Study in the Department of Bacteriology, University of Wisconsin-Madison. He has his own lab in UCONN Storrs campus, Klassen Laboratory. Learn more on jonathanklassenlab.com and follow their activities on Twitter @KlassenLab. | |||
20 Apr 2015 | #26 Infectious Diseases Presentation | 00:26:42 | |
Plugging Away at Leaks in the Public Health Dike: Infectious Disease - Ebola and the Rest. This event was sponsored by the UCONN Student Chapter of the American Society for Microbiology and featured 2 speakers. Dr. Richard Melchreit is the Healthcare Associated Infections Program Coordinator at the CT Department of Public Health. He discussed the hosts of infectious disease challenges facing public health today. He discussed the concerns and pandemic influenza, outbreaks for foodborne disease; healthcare associated infections; and antimicrobial-resistant pathogens (such as MRSA, drug-resistant TB and CRE) Dr. Randal Nelson, DVM, CT State Public Health Veterinarian expanded upon Dr. Melchreit’s ideas as well as talked about zoonoses. Dr. Rob Knight from Pediatrics and Computer Science and Engineering of University of California presented on the Dynamics of the Human Microbiome. I share a few points he made during his presentation that shows just how powerful the microbiome in all of us. | |||
22 Jun 2015 | #28 Interview with Maddie’s Herd | 00:31:30 | |
Maddie Shaw is an active advocate with the Immune Deficiency Foundation and has a Primary Immune Deficiency Disorder (PI). She is also the Founder & Leader of Maddie’s Herd. Maddie's Herd raises awareness and research funds ($22,000 so far of her $50,000 goal!) for the ImmunoDeficiency Foundation (IDF) as 1000s of Americans are battling immunodeficiency disorders through prolonged diagnosis. Maddie is teaching doctors to "Think Zebra" when they hear hoofs. Like Maddie's Herd on Facebook to stay up to date. Don't forget to get your very own Maddie's Herd T-shirt and bracelet, both of which Ed Sheeran owns, he even wore his bracelet while playing on stage! | |||
20 Jul 2015 | #30 Women In Genetics | 00:27:44 | |
10 women who made major contributions to the fields of microbiology and genetics are recognized. Rosalind Franklin provided key evidence for the structure of DNA. Nettie Stevens supported her hypothesis that a fetus’s sex was determined by chromosomes, not environment. Barbara McClintock discovered mobile genetic elements. Salome Gluecksohn Waelsch founded the field of developmental genetics. Esther Lederberg discovered the lambda phage, worked on the F fertility factor, and, developed the method of replica plating. One theme throughout this episode is how little credit these women recieved for their work. | |||
10 Jul 2015 | #29 Precision Medicine Initiative and 21st Century Cures Act | 00:28:26 | |
A review of a Precision Medicine Initiative presentation at Jackson Laboratory Genomic Medicine in Farmington, CT. by Dr. Jo Handelsman. Also on July 10th the 21st Century Cures Act passed in the House of Representatives, the advantages and disadvantages are explored if this is passed in the Senate. | |||
17 Aug 2015 | #31 Robin Schwartz, A Hereditary Cancer Genetic Counselor | 00:31:21 | |
Robin Schwartz shares her experience as a hereditary cancer genetic counselor. As a genetic counselor for over 30 years she has seen many changes in the field and provides an inside scoop. She provides information to patients who are interested in genetic counseling and how patients can prepare for a genetic counseling meeting. We discuss red flags for hereditary cancer, genetic testing, and how insurance coverage works with the cost of these services. Check out nsgc.org, mentioned by Robin Schwartz, to learn more about genetic counselors. | |||
24 Aug 2015 | #32 Dr. Caroline Dealy, Regenerative Medicine and Skeletal Development | 00:28:54 | |
Dr. Caroline Dealy of UCONN Health gives an inside scoop about her research on the development of the human skeleton. This regenerative research involves human embryonic and induced pluripotent stem cell. Dr. Dealy explains the role of genetics in these stem cells. She shares her insight on these incredible potential medical treatments for people that have lost limbs. We also discuss her role as the director of the Skeletal, Biology and Regeneration Graduate Program and what she is teaching her students in anticipation of how this field is changing. | |||
28 Sep 2015 | #34 Henrietta Lacks | 00:30:24 | |
UCONN hosted a free event honoring Henrietta Lacks on September 24th, 2015 at The Jorgensen Center for the Performing Arts. The bestselling author of the book, The Immortal Life Of Henrietta Lacks, Rebecca Skloot presented as well as members of the Lacks family. This episode recaps the event and features an interview with descendents of Henrietta Lacks, Kimberly Lacks, granddaughter, and Veronica Spencer, great-granddaughter. | |||
05 Nov 2015 | #36 BRCA UCONN Event | 00:21:41 | |
I recap the UCONN BRCA event I MCed. It featured a panel of experts including a Certified Genetic Counselor (Robin Schwartz, featured below), members of the department of Public Health Genomics Advisory, Physicians and Cancer survivors. There was an interactive presentation about family history tool, education, and cancer genomics best practices. There was a discussion with medical personnel and patients about identifying risk factors for hereditary breast and ovarian cancer, genetic testing, how to find qualified genetic personnel, sharing a BRCA diagnosis, and ethical issues surrounding genetic testing. | |||
31 Aug 2015 | #33 Syndromes Raise Cancer Risk | 00:25:19 | |
What are syndromes that elevates one’s risk for developing cancer? There are many different conditions, this episode highlights Cowden’s Syndrome, Lynch Syndrome and Li-Fraumeni Syndrome. I cover information such as what the syndrome is, how it increases risk of cancer, how prevalent it is, how it is inherited, and what genes are involved. | |||
19 Oct 2015 | #35 October Awareness Month | 00:20:58 | |
It’s October and that means it National Awareness for many cancers, disorders and diseases. I discuss some of these giving a 101 lesson on the diseases such as breast cancer and liver cancer. Don't forget to attend the BRCA event, "Understanding Risk for Breast and Ovarian Cancers: A Discussion for Students as Consumers & Future Healthcare Provider". It is happening here at UCONN Storrs! | |||
02 Jan 2016 | #37 Your Cells. Their Research. Your Permission? | 00:21:28 | |
Rebecca Skloot, best-selling author, has published an article, "Your Cells. Their Research. Your Permission?", in it she urges the public to voice their opinions whether permission should be required by scientists to use people's cells for research. She poses the following questions for the public to comment on on a government website, but do it fast because it closes January 6th, 2016. “Should scientists have to ask permission to use all leftover clinical samples? Would you say yes? Is broad general consent enough, or do you want options for more control? Why? Should this apply to both tissues and genetic information, anonymous or not? And what if this slowed scientific progress?” Need more information to form your opinion? Check out this one page summary and videos from the Department of Health and Human Services. | |||
18 Jan 2016 | #38 Here Is A Human Being Book Review | 00:22:41 | |
In his book, Misha Angist takes you through his experience as the fourth subject in the Personal Genome Project, George Church’s ambitious plan to sequence the entire genomic catalog: every participant’s twenty thousand–plus genes and the rest of his or her six billion base pairs. He shares his thought process on deciding to be a participant and contemplates the advantages and disadvantages. This journey takes you through Angist discovering his variants and what disease he was at a higher risk for. | |||
25 Jan 2016 | #39 Sun Kissed & Kardashian’s Genetic Testing | 00:27:57 | |
On a recent episode of the Keeping Up With The Kardashians, the family went through genetic testing, but what did the episode leave out or get wrong? I review the documentary Sun Kissed: One Gene Exposes a Nation's Dark Past, about a family who has children with an extremely rare genetic disorder, Xeroderma Pigmentosum, that only shows up at a rate of one in a million in the general population however on the Navajo Reservation they live on where the frequency is 1 in 20,000. | |||
22 Feb 2016 | #40 UCONN-TIP (Technology Intern Program) | 00:16:52 | |
Dr. Caroline Dealy returns to the show to discuss the UCONN-TIP (Technology Intern Program). She is the founder and director of the program. UCONN-TIP pairs UConn students with university start-up companies for mentored research internships in business or STEM. She shares what kind of research experience can students anticipate and how it can help in your career. You can read more about the program and apply. Submit your application soon, the deadline is March 7th, 2016! | |||
29 Feb 2016 | #41 Rare Disease Day 2016 | 00:26:52 | |
February 29th is the rarest day of the year and that means it's Rare Disease Day! Throughout the world NORD (The National Organization of Rare Diseases) has hosted Rare Disease Day events. I attended the Connecticut Rare Disease Day at the State House in Hartford and interviewed a few of the presenters including Jackie and Eloise Stager, founders of JaxLegacy, John Hopper, the director of the Fibrolamellar Cancer Foundation and Maddie Shaw, leader of Maddie's Herd. Join the rare disease tweetchat March 1st, 2016 at 1pm ET using the hashtag, #abcDRBchat. | |||
14 Mar 2016 | #42 Women In Bioscience: Let There Be No Limit | 00:25:18 | |
Jackson Laboratories held The Bioscience Career Forum II: Women in Biosciences on March 11, 2016 at it's newest location on UCONN Health’s campus in Farmington, CT. The Forum centered on recruiting and retaining women in the biosciences. Women leaders in the bioscience industry discussed what it takes to enter Connecticut's most rapidly developing sector. Topics included equalizing the the gender gap in the biosciences, vital skill acquisition and training, the importance of networking and finally, how to land job. Speakers included.... Ellen Matloff is the former director of Yale's Cancer Genetic Counseling program and current CEO and president of My Gene Counsel. Her keynote address focused on society’s impact on girls and women pursuing careers in the biosciences. Dr. Albert Cheng, Assistant Professor, JAX-GM, presented on CRISPR –Cas9 Genome Editing Technologies. A panel of women in the bioscience field discussed being a women in the field and answered students questions. Dr. Susan Mockus, Manager, Clinical Analytics and Curation, The Jackson Laboratory for Genomic Medicine Dr. Espy Anguiano, Senior Manager, Genome Technologies Operations, The Jackson Laboratory for Genomic Medicine Dr. Kimberly Dodge-Kafka, Associate Professor, Department of Cell Biology, UConn Health Dr. Barbara Kream, Professor of Medicine and Genetics & Genome Sciences, and Associate Dean of the Graduate School, UConn Health Moderator: Melanie Sinche, M.Ed., NCC, Director of Education, The Jackson Laboratory for Genomic Medicine. | |||
18 Apr 2016 | #45 Hole In The Wall Gang Camp | 00:28:57 | |
The Hole in the Wall Gang Camp is dedicated to providing “a different kind of healing” to seriously ill children and their families throughout the Northeast, free of charge. It’s a community that celebrates the fun, friendship and spirit of childhood, where every kid can “raise a little hell.” Former camper and current camp counselor, Ester Wasserman shares the magic of camp, how it was founded, what it offers campers and her own experience through the years. | |||
21 Mar 2016 | #43 Lynch Syndrome | 00:27:29 | |
March is colorectal cancer awareness day and March 22nd is Lynch Syndrome awareness day! Hereditary nonpolyposis colorectal cancer (HNPCC), more commonly known as Lynch syndrome, is an inherited condition that greatly increases the risk of many cancers, most notably colorectal cancer. This condition also increases the risk for other cancers such as endometrial, ovarian, and gastric cancer. Cancers that have a less severe risk increase include hepatobiliary tract, urinary tract, small bowel, pancreatic, brain/central nervous system, and sebaceous neoplasms. Not all people with Lynch syndrome have the same elevated risks. Risk levels depend on which gene(s) have mutations. Lynch syndrome is caused by mutations in the following genes, MLH1, MSH2, MSH6, PMS2, and/or EPCAM. This paper will explore the differing risks of types of cancers between genes along with how those gene variants are identified and measures that can be taken to reduce those risks. To learn more about Lynch Syndrome you can go to the Genetics Home Reference at ghr.nlm.nih.gov. Hear from Lynch syndrome patient, Georgia Hurst, who is also an advocate and has her own support group, "I Have Lynch Syndrome" on episode 25! | |||
25 Apr 2016 | #46 DNA Day! | 00:27:31 | |
National DNA Day commemorates the completion of the Human Genome Project in April 2003 and the discovery of the double helix of DNA in 1953. NHGRI began celebrating DNA Day annually on April 25th after the 108th Congress passed concurrent resolutions designating it as DNA Day. The goal of National DNA Day is to offer students, teachers and the public an opportunity to learn about and celebrate the latest advances in genomic research and explore how those advances might impact their lives. Check out NIH's director, Francis Collin's AMA on Reddit, the Harry Potter and the Genetics of Wizarding webinar and the tweetchat #DNADay16 archives. To celebrate on the show, I talk about what DNA is, the history of humans discovering new aspects of DNA, the fun events you can take part in and careers that all relate to DNA. Any questions about DNA Day and it’s events can be direct to dnaday@nih.gov. You can learn more on their website, https://www.genome.gov/10506367/national-dna-day/. | |||
29 Mar 2016 | #44 CRISPR | 00:31:20 | |
CRISPR is a genetic editing technology that will change the future of genetics. In the past 3 years it has been used in labs throughout the world. It has the potential to fix point mutations and larger mutations in our genome. Diseases caused by point mutations include Cystic Fibrosis, Sickle Cell Anemia, and Tay-Sachs disease. More complex conditions such as cancer, HIV or autism could be cured if the RNA gene editing is developed further. On March 16th, 2016, it was published that RNA was successfully targeted for the first time. This is just the beginning of CRISPR. Listen to hear how CRISPR works and how it was discovered. Get the inside scoop on the current research, ethics, politics, and patents. | |||
19 May 2016 | #47 Sharon Turcotte on lncRNAs | 00:32:10 | |
Sharon Turcotte did research on lncRNAs with Williams Lab at the Jackson Laboratory for Genomic Medicine. She teaches us what a lncRNA is, its function in gene expression, diseases lncRNAs have been associated with, using the CRISPR-Cas system and her advice for students joining the biotech industry. If you want to learn more about RNAs, check out the database RNAcentral.org. You can also read more information about Williams Lab. | |||
19 Jul 2016 | #48 Dr. Ellen Elliott on lncRNAs and CRISPR | 00:32:27 | |
Dr. Ellen Elliott discusses her research of lncRNAs in TH2 cells and asthma. One of the technologies she uses to study this is CRISPR, a genetic editing technology. CRISPR has hit the mainstream media fast, it was recently featured on the cover of TIME magazine. Dr. Elliott also gives us a sneak peak at Jackson Laboratory’s new blog series. Dr. Ellen Elliott is a Postdoctoral Associate in Adam Williams’ lab at the gorgeous Jackson Laboratory Genomic Medicine in Farmington, CT. Dr. Elliott is studying the function of long non-coding RNAs in TH2 cells and asthma. Her results will hopefully generate lncRNAs that could be used as therapeutic targets or in diagnostic tests. Dr. Elliott graduated from Indiana University with a BS in Biology and a BS in Neuroscience. After she graduated from the University of Pennsylvania with a PhD in Cell and Molecular Biology. | |||
28 Jul 2016 | #49 Brittany Gancarz on Prenatal Genetic Counseling | 00:31:18 | |
Prenatal genetic counselor Brittany Gancarz talks about the field of genetic counseling, busts a few genetic counseling myths and announces a new genetic counseling program in Connecticut! She shares her expertise on genetic testing, what patients can expect during a prenatal genetic counseling appointment, and gives advice to students who are pursuing genetic counseling. Brittany Gancarz graduated from Sarah Lawrence College with a master’s of science degree in Human Genetics. She is a genetic counselor and a clinical instructor in UCONN Health’s Genetics and Developmental Biology department. | |||
18 Aug 2016 | #50 Dr. Melina Fan about Addgene | 00:28:53 | |
Dr. Fan explains what plasmids are, highlights cool genes that are inserted into plasmids and how Addgene's plasmid repository works. | |||
16 Sep 2016 | #51 Nevena Hristozova on Stress Proteins in Plants | 00:30:00 | |
Nevena Hristozova joins me on the show all the way from Brussels! She is in the field of research working with chaperones - stress related proteins, in plants under unfavorable environmental conditions. Nevena maps the molecular interactions of those proteins and their client proteins. We discuss the relationship between chaperons and plants, different types of stress related proteins, chaperons in humans and GMOs. She started her education in Biotechnology in her home country of Bulgaria, then moved to Helsinki for a master's degree in Natural resources, and is now last year PhD student in the Flemish Institute for Biotechnology in Brussels. Nevena's been working on molecular mechanisms of plant resistance and protection against pathogens and environmental conditions. You can check out her blog and follow her on Twitter at @NHristozova. | |||
09 Dec 2016 | #58 Joanne Kamens on Gender Equality in Science | 00:27:47 | |
Dr. Joanne Kamens discusses gender equality in work environments, specifically in scientific fields and how to have a successful career in science. We talk about the progress made so far, and how much more advances there are to be made. Trailblazers such as Sheryl Sandberg have been increasing awareness for gender work equality with her Lean In movement. Joanne offers her insight why women are not represented in CEO, President and other high positions in companies. She comments on the gender pay gap and how companies can work towards closing the gap. Careers in science include academia and research, but the list doesn't end there. Joanne explains a few non-traditional roles offered at Addgene and other companies. She shares her own experience to finding her current role at Addgene. Networking is key in careers, and Joanne discusses this in her Not Networking video. Dr. Joanne Kamens is the Executive Director of Addgene, a mission driven, nonprofit dedicated to helping scientists around the world share plasmid reagents. We previously talked to her colleague, Dr. Melina Fan about Addgene. Joanne received her PhD in Genetics from Harvard Medical School then spent 15 years at BASF/Abbott, ultimately serving as Group Leader in Molecular Biology. In 2007 she joined RXi Pharmaceuticals as Senior Director of Research Collaborations. Dr. Kamens has been raising awareness of women scientists since 1998. She founded the current Boston chapter of the Association for Women in Science. Dr. Kamens was recognized as one of the 2013 PharmaVoice 100 Most Inspiring and one of the Forty Over 40 Women Making an Impact. | |||
23 Sep 2016 | #52 Charcot Marie Tooth Interview | 00:28:07 | |
September is national awareness month for Charcot Marie Tooth (CMT)! It’s perfect timing for Bernadette Scarduzio and Allison Moore to educate us on CMT in honor of the awareness month. "Charcot-Marie-Tooth disease (CMT), named after the three doctors who first identified it, is one of the most common inherited nerve disorders. CMT affects an estimated 1 in 2,500 people in the United States and 2.6 million people worldwide, although experts believe the number could be much higher." (hnf-cure.org) Bernadette Scarduzio and Allison Moore are a passionate advocates for Charcot Marie Tooth (CMT) syndrome working for the Hereditary Neuropathy Foundation. Allison is the Founder and CEO and Bernadette is the Social Media Coordinator. Bernadette was born with CMT and lives with the syndrome every day. To raise awareness for the disease Bernadette’s life and family were featured in her self titled documentary, supported by HNF. Many of Bernadette’s family members also have the syndrome and she has made it her mission to fight for CMT. To check out the Hereditary Neuropathy Foundation’s Patient-Centered Charcot-Marie-Tooth Summit you can visit the webpage. Follow Bernadette and the Hereditary Neuropathy Foundation on social media to stay updated on Twitter (@BernsLife13 and @CMTNeuropathy), Facebook (@BernsLife and @Bernadettecmtmovie). | |||
16 Dec 2016 | #59 Scott Weissman on Genetic Counseling Private Practice | 00:28:00 | |
Scott Weissman, founder of Chicago Genetic Consultants, discussing being an entrepreneur and genetic counselor at his private practice along with the subfields of genetic counseling he focuses on including cardiogenetics, hereditary cancer, and carrier screening. He shares his expertise on direct-to-consumer genetic testing offered from a variety of companies. Scott Weissman is a trailblazing genetic counselor who recently started his own independent practice, Chicago Genetic Consultants. He has previously been a genetic counselor at GeneDX and NorthShore University HealthSystem. Scott has received the Strategic Leader Award from the National Society of Genetic Counselors for working on multiple projects related to Medicare guidelines for cancer genetic testing, publishing genetic counseling and testing vignettes in the journal Community Oncology, and the United States Preventative Services Task Force BRCA genetic counseling guidelines. Scott is currently a Clinical Faculty member at the Northwestern University Graduate Program in Genetic Counseling and a senior genetic counselor at Aurora Health Care. | |||
14 Oct 2016 | #53 Ginger Nichols on MotherToBaby | 00:26:09 | |
Genetic counselor, Ginger Nichols, shares about what the MotherToBaby service offers (1-860-679-6199 for CT), her role as a genetic counselor, her expertise of the impact of the Zika Virus on pregnancy, the recommendation of flu shots for pregnant women, the effect of drugs on pregnancy, and October being Pregnancy and Infant Loss Awareness Month. Ginger also offers her insight into becoming a genetic counselor. Ginger Nichols is a certified genetic counselor. She currently works for MotherToBaby CT, which is housed at UCONN Health in the Human Genetics department. Previously she worked in cytogenetic laboratories, taught undergraduate biology/genetics, and counseled adults with Down syndrome and other genetic disorders. She received her bachelor’s in Biology and Sociology at Juniata College followed by a Master’s in Medical Genetics at the University of Cincinnati. If you want to find a genetic counselor in your area, please go to nsgc.org, there you can find a search feature that allows you to locate a genetic counselor near you or genetic counselors that offer phone session. To learn more about the field check out NSGC's new website, aboutgeneticcounselors.com. | |||
18 Oct 2016 | #54 NYS Regional Cytogenetics Meeting | 00:31:29 | |
Four events in one episode! I cover the NY Cytogenetics Regional Meeting I attending highlighting interesting points from presentations by Dr. Irene Cherric, Dr. Robert Hutchinson, Thomas Pope, Dr. Kazim R. Chohan, and Dr. Frank Middleton. I also discuss my presentation on the public's awareness of genetics through social media. These three genetic events are upcoming at UCONN/UCONN Health. All three have a focus on epigenetics, showing just how influential and universal this field of genetics is becoming. Environment, Epigenetics and Cancer: How to Cultivate the Connections October 24th, 2016 at 11:30 in the Student Union of UCONN Storrs, CT. Keynote Presentation by Mary Beth Terry, PhD “Breast Cancer Susceptibility : Rethinking the role of the environment and methods to improve risk assessment” Goal of the event to provide attendees with an update of current research and our understanding of the role of epigenetics and the environment in cancer risk and development. The panel will discuss advances in risk assessment, implications of scientific discoveries, epigenetic biomarkers and technological advances in screening, diagnosis and treatment of cancer as well as provide feedback about the public and patient perspective. Gene Editing: The CRISPR Revolution October 26th, 2016 at 6pm in the Dodd Research Center f UCONN Storrs, CT. Keynote speaker, Sharon Begley, the the senior science writer at STAT, the life sciences publication of the Boston Globe will be discussing the invention and evolution of the CRISPR-CAS9 technology. It seems as if the possibilities for CRISPR are endless: drought–resistant crops, disease resistant livestock, new drugs and a cure for cancer. How does this technology work? What are some of the current explorations of the gene editing technology? What are the limitations and the risks of its use? What ethical conversations need to be had by science, the public, policymakers? Prader-Willi Syndrome: New Epigenetic Findings and Potential Routes to Therap November 4th, 2016 at 2pm in the Henry B.C. Low, M.D. Learning Auditorium at UCONN Health in Farmington, CT. The keynote speaker will be Marc Lalande, Ph.D., Health Net Professor and Chairman from the Department of Genetics and Genome Sciences, UConn Health. | |||
18 Nov 2016 | #56 Brianne Kirkpatrick on Ancestry Genetic Testing | 00:26:44 | |
Genetic counselor Brianne Kirkpatrick discuss family health history in honor of November being it’s awareness month, what the public should know about direct-to-consumer tests, how ancestry genetic testing works, and insight on running a private practice. Brianne Kirkpatrick, is a licensed and certified genetic counselor with more than 11 years of experience. She is a member of the National Society of Genetic Counselors, International Society of Genetic Genealogy, and the National Genealogical Society. She has her own private practice, WatershedDNA, where she offers clients her expertise in medical genetics and counseling to provide support and information to those seeking DNA testing for genealogy and health purposes. Brianne received her Bachelor’s in Biology and Religious Studies at Indiana University followed by a Master’s in Genetic Counseling at Northwestern University. | |||
04 Nov 2016 | #55 Sharon Begley on CRISPR, a BRCA Event | 00:31:39 | |
Sharon Begley presented at UCONN about the invention and evolution of the CRISPR-CAS9 technology. After the event she joins me on the show to discuss how CRISPR technology is making huge advances in research with HIV/AIDS, sickle cell disease and more. We discuss how CRISPR compares to other genetic editing technologies and why it has become so universal. Sharon Begley, is a science communicator and is the senior science writer at STAT, the life sciences publication of the Boston Globe. Sharon Begley was previously the senior health and science correspondent at Reuters, the science editor and the science columnist at Newsweek, and a contributing writer at the magazine and its website, The Daily Beast. She is the co-author of the book, The Emotional Life of Your Brain. Another UCONN event is discussed in this episode, Environment, Epigenetics and Cancer: How to Cultivate the Connections. I highlight points from Dr. Mary Beth Terry’s keynote presentation, “Breast Cancer Susceptibility: Rethinking the role of the environment and methods to improve risk assessment” including risk factors for breast cancer and the models used to calculate this risk. Panelist at the event who accompanied Dr. Terry on stage are Dr. Gary Lee Ginsberg, a toxicologist for the CT Dept of Public Health, Ellen Matloff, a certified genetic counselor and President of My Gene Counsel, and Dr. Christina Stevenson, an oncologist at UConn Health. Panel Moderators: Dr. Robert Henning, CPH-NEW Investigator and Dr. Judy Brown, Director Diagnostic Genetic Sciences Program and Health Care Genetics Professional Science Master's Degree Program. I discuss the major topics brought up by the audience along with the panelist responses. | |||
25 Nov 2016 | #57 Georgia Hurst on Lynch Syndrome | 00:31:29 | |
Patient advocate, Georgia Hurst, shares about the hereditary cancer syndrome that she has, Lynch syndrome. It is an inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon and rectum, and the reproductive organs in woman depending on which of the five Lynch syndrome mutations they hold. Georgia shares about her journey with Lynch syndrome from genetic counseling and genetic testing to find her mutation to risk reducing surgeries and how it has altered her life. New research and treatments in the hereditary cancer syndrome community is also Genetic counselors are important in guiding patients through genetic testing. Genetic counselors are valuable resources for helping patient learn about what hereditary cancer syndromes they may have and information for risk reducing surgeries. We highlight the difference between people practicing genetic counseling and certified genetic counselors. Georgia Hurst is a Lynch Syndrome Advocate, with her roles as Founder and Executive Director of the nonprofit, IHaveLynchSyndrome.com, a fantastic resource for people to learn about Lynch syndrome and read personal blog posts by Georgia on her experiences. Georgia has Lynch syndrome which is an inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon and rectum, and the reproductive organs in woman depending on which of the five Lynch syndrome mutations they hold. She is a stakeholder in the National Academy of Sciences: Genomics and Population Health Action Collaborative. Her mission is to educate doctors and the public around the globe about Lynch syndrome. | |||
06 Jan 2017 | #60 Dan Donovan on Onevoice | 00:30:17 | |
Dan Donovan is the Co-Founder and CEO of Onevoice, a rare disease community building software solution. Onevoice provides a powerful encouragement and knowledge platform for all rare disease stakeholders. It is an all-inclusive collaboration and encouragement space for Patients and Physicians and all the people involved in rare disease — welcoming all who participate in diagnosis, treatment, research, caregiving and advocacy. Onevoice is the first Encourage Media platform – featuring the “+care” button, Sentiment Palette and Encouragement Power. Dan has spent nearly 3 decades in the pharmaceutical industry on both the industry and service sides of the business – first with Pfizer then creating Envision Pharma, which was acquired by United BioSource Corporation. His introduction to the world of rare disease began in 2011 when he was appointed to the Board of Directors and later as Chief Business Officer of Cancer Prevention Pharmaceuticals. Dan is the primary visionary behind the Clear offering. | |||
20 Jan 2017 | #61 Wes Wilson on Tumor Progression Epigenetics | 00:27:00 | |
Wesley Wilson discusses the epigenetic patterns in tumor progressing. He shares his expertise on pediatric cancer, how epigenetics differs between types of cancer, using epigenetics to diagnosis cancers and how treatment can differ depending on epigenetic patterns identified. Wes also gives an insider's view on the Hacking Health organization and how he contributes in his role. Wesley Wilson is a Canadian molecular biologist, whose work is focused on studying the epigenetics of tumor progression in pediatric brain cancers. He is also an ardent programmer and developer sitting on one of the organizing committees for Hacking Health. Wes founded the online science blog, MostlyScience.com and contributes to ScienceSeeker.org. His writings aim to demystify evidence based medicine. | |||
03 Feb 2017 | #62 Cytogenetics Basics | 00:34:08 | |
Cytogenetics is the field genetics at a cellular level, which means looking at chromosomes (bundles of DNA). Clinical Cytogeneticist, Charlotte Keith, discusses the areas of testing; acquired and constitutional, which is broken down into prenatal and postnatal. She explains how balanced and unbalanced rearrangements work and talks about a case that explains the concept. Charlotte gives us an UK view of how genetic counseling is incorporated into their genetic testing process and just how complex “informed consent” is when it comes to genetic testing as incidental findings do happen. Direct-to-consumer testing becoming more popular and Charlotte adds in her opinion on these companies and the science behind them. Check out the website Charlotte recommends for understanding chromosome disorders www.rarechromo.org, it has resources for countless syndromes with downloadable pdfs outlining information in laymen’s terms. She also mentions the Deciphering Developmental Disorders (DDD) project and the 100,000 Genomes Project. Charlotte is a Clinical Cytogeneticist from Scotland, providing diagnostic and prognostic genetic testing for NHS (National Health Service) patients. | |||
28 Feb 2017 | #63 Rare Disease Day 2017 | 00:28:11 | |
Today is Rare Disease Day! I attended the National Organization for Rare Disorders' (NORD) event in Hartford, Connecticut’s Legislative Building. I recap the event and feature two interviews, one with Michelle Cotton, a patient advocate and mom of a child with a rare disease. The other interview is with Representative Dave W. Yaccarino, who spoke to me about the legislation's impact on biotech and Rare Diseases. Some facts about Rare Diseases, 30 million Americans have a Rare Disease which means 1 in 10 people in America are affected. Over half of those with a Rare Disease are children, and about 30% will not survive past 5 years old (NIH). We are aware of over 7,000 rare diseases and continue to discover more every year. Today's event was to raise awareness of Rare Diseases to the public, but most of all to our state legislators as many decision on the state level have major impacts on those in the Rare Disease community. Speakers of the event mentioned in this episode include... Vanessa Proctor, the Executive Director of Global Governmental Affairs at Alexion Professor David Goldhamer, Associate Director of the UCONN Stem Cell Institute Gayle Temkin, Founder of Alyssa’s Angels Fund and mother of child with a glycogen storage disorder Dr. David Weinstein, Glycogen Storage Disorder Program at Connecticut Children’s Medical Center Michelle Cotton, a mother of child with a Fatty Oxidation Disorder (FOD) called SCADD (FODsupport.org) Madison Shaw, Founder of Maddie's Herd Dr. Mustafa Kokhura, Yale Genetics Fran Reed, CureGSD You can learn more about Bill HB6009, An Act to Create a Permanent Rare Disease Advisory Council. Check out DoYourShare.com, a supporting website featuring community stories, an opportunity for those living with a rare disease or those involved in the community to share their story, and ways to get involved in areas ranging from awareness and advocacy to research and donation. Please rate, review and subscribe in iTunes, here's a direct link to the podcast's listing. | |||
10 Mar 2017 | #64 Dan Faszczyk on Kolgene | 00:26:17 | |
Dan Faszczyk is the Co-Founder and CEO of Kolgene, a platform connecting clinicians with genetic labs around the world. His company streamlines the process of looking for labs, communicating with them and ordering the tests. The demand for genetic testing is growing as more labs are performing a wider variety of tests. KolGene allows physicians access to the global supply of genetic tests while saving them time, money and improving patients’ care. This service enables physicians to offer their patients the most up to date tests available, while saving hours searching through lab’s websites to find them. Kolgene is for genetic tests as Kayak is for hotels; instead of searching for labs the clinicians post a request for a test and let labs extend unique, customized offers and have all those options appear in one screen. For years Dan held executive commercial positions in healthcare with a specialization in genetics. He worked with leading companies and labs from all over the world. His experience and insights led him to found KolGene. To stay updated on Kolgene's developments follow them on Facebook and LinkedIn; be sure to check out their on the app store or Google Play and website too! | |||
16 Jun 2017 | #65 CRISPRed Imprinting Disorders | 00:23:36 | |
Over the weekend, geneticists, genetic counselors, professors, researchers and students gathered at the University of Connecticut to learn about a new genetic editing technology that has taken over labs and stolen headlines, CRISPR.
UCONN hosted "The Impact of CRISPR on Imprinting Disorders" featuring presentations from Christopher Stoddard, Dr. Marc Lalande, Dr. Stormy Chamberlain, Dr. Michael O'Neill among others.
Chris Stoddard, who operates the human genome editing core at UCONN Health, join me on the show to explain CRISPR's origin, how we adapted CRISPR to use it in the lab, and two different CRISPR methods (editing the genome and the epigenome).
I highlight other research with CRISPR including to research autism spectrum disorder, Angelman Syndrome and Prader-Willi Syndrome. | |||
07 Jul 2017 | #66 Dr. Susan Capasso on Genetic Counseling | 00:22:40 | |
Dr. Susan Capasso is the Genetic Counseling Program Director at Bay Path University, a new online program graduate level program. She was previously the vice-president of academic affairs, dean of faculty and the chief academic officer of St. Vincent’s College. She received her B.A. at the University of Vermont, M.S. from Georgetown University, and Ed.D. from the University of Hartford. Dr. Capasso is also a licensed and certified genetic counselor and served as a Genetic Counselor at St. Vincent’s Medical Center.
In this episode, we discuss aspects of genetic counseling and getting kids excited about STEM fields. Dr. Capasso shares her personal career path into genetic counseling and how this journey differs between genetic counselors. We discuss the skills required to be a genetic counselor and what roles and responsibilities they carry. The episode wraps up with recommendations and advice for those pursuing the field of genetic counseling. | |||
08 Sep 2017 | #67 Daniel DeFabio on Disorder: The Rare Disease Film Festival | 00:29:20 | |
Daniel DeFabio is co-director of Disorder: The Rare Disease Film Festival. This event is a first of its kind showcasing a myriad of films from around the world that address the challenges of life with a rare disease. The film festival has support from some of the leading organizations in rare disease advocacy -- NORD, Global Genes, The Mighty, RDUF and MassBio. The event is going to be in Boston, MA on October 2nd & 3rd, 2017.
Daniel has also written about the rare disorder Menkes Disease for The Mighty. One of these stories won the 2015 Rare Patient Story Award from Global Genes. He made a 12 minute documentary on Menkes Syndrome narrated by Oscar nominee Mary McDonnell. In 2008 he founded the Ballston Spa Film Festival. He was a pioneer of original content online (now called web series) and co-wrote and co-produced the internet's first animated series. He has created videos and motion graphics for American Cinematographer, PBS, bio-techs, hospitals, TNT's “The Closer” and HBO's “Curb Your Enthusiasm”.
To keep updated with Disorder: The Rare Disease Film Festival, like them on Facebook. | |||
29 Sep 2017 | #68 Bo Bigelow on USP7-Related Disorders | 00:28:35 | |
Bo Bigelow made national news when he used Reddit and social media to find a diagnosis for the genetic disorder his daughter faces. Those same efforts led him to a researcher who is now investigating the disorder. Bo hosts another podcast “Stronger Every Day” and has written a book of the same name, as well as several novels. He co-founded Maine Rare. He was the State Leader for Rare Disease Day in Maine for NORD (the National Organization for Rare Disorders). He's also a lawyer.
The film he produced, "Tess Is Not Alone: A USP7 Story" will be played during the Rare Disease Film Festival in Boston October 2rd through October 3rd.
Learn more about USP7-Related Disorders on the Foundation for USP7-Related Disorders on their website. Keep up with Bo and his family by following @BoBigelow and @strongerpodcast on Twitter. | |||
26 Oct 2017 | #69 Jackson Lab’s Forum on Healthcare Innovation | 00:29:34 | |
“The Forum on Healthcare Innovation: Technology and the Future of Healthcare Delivery” was hosted by Jackson Laboratories in Farmington, CT on the UCONN Health campus. The conference was full of healthcare professionals and covered genetic testing (including direct-to-consumer), genomics, the microbiome, patient advocacy and healthcare technology. In this episode, I share highlights from some of the presentations including from Francis Collins, the NIH Director.
Francis Collins, Director of National Institute for Health, shares that the NIH also stands for hope. Reasons for hope include uncovering life’s foundations, translating discovery into health and moving forward together. Collins gave an overview of the different projects ongoing at NIH, starting with the backstory of the Human Genome Project. A major aspect of the project that has impacted the future of research and healthcare was the data sharing. Every 24 hours, new data collected from the day was uploaded allowing researchers to start using the data in their own research. It would have taken years if the project had waited to release data when it was officially published. This idea of data sharing has increased collaboration between scientist, accelerating the rate of research and development.
Collins also shared his excitement around CRISPR, the gene editing technology. From basic research to human trials. This is huge as people often say basic research is not worth the money, but every once in awhile something like this comes along and completely changes the field. CRISPS has already achieved the status of a revolution in medicine and biotechnology. Collins predicts it will cure the first molecular disease, Sickle Cell Disease.
The current major NIH project is “All of Us” (formerly Precision Medicine Initiative). Beta launched in May 2017 with a full launch in Spring 2018 where it will ramp up to having over 100 locations. The purpose of the project to accelerate healthcare, specifically for individualized care. Enrolling one million participants is the goal. The term participants is key, as opposed to human subjects, as the patients are considered partners in this journey. Why now? One main reason is the insane drop in the cost of sequencing, in 2004 it costs $22 million to sequence a genome, now in 2017 the cost is $800. “We don’t have a healthcare system, it’s a sickcare system” Collins explained. The more data we can provide showing prevention is more effective than treatment will help us make this transition in our health care approach.
Collins also commented on the exciting new field of microbiome research, studying the bacteria that live in and on us. Human Microbiome Project’s mission is to generate resources for comprehensive characterization of the microbiome. It started in 2008 and is now in it’s second phase. George Weinstock, professor at Jackson Laboratories, state there are 754 studies on clincialtrails.gov (as of 10/25/17) that list the microbiome. New genetic sequencing technologies (like Next Generation Sequencing) has driven this field. Research centers around the relationship between disease and the microbiome. The microbiome has additional obstacles when researching, compared to genomics, due to it’s enormous plasticity. Our microbiome changes with our environment, diet etc. One interesting research study mentioned studies Olympic level athletes to find out if there is a “golden microbiome”, so far they have found a bacteria in common with many of these athletes, M. smithii. Another advancement in the field is an FDA approved product produced from microbiome research data, AEObiome’s MotherDirt. It is a body spray that is designed to be compatible with the microbiome of the skin.
James Lu, Co-Founder and Senior Vice President of Applied Genomics, Helix, discussed direct to consumer genomics and a few interesting new genetic themed apps (Neanderthal by Insitome, BABYGlimpse by HumanCode). He also talked about emerging platform for participatory research such as Precise.ly, which tracks symptoms and diseases.
Lisa Anderson, Co-Founder and Chief Executive Officer of Genome Medical, stressed the potential genetics/genomics medicine has to improve patient outcomes and reduce costs of care, YET it’s not accessible to patients despite the technology existing. Genetic testing is growing 20-25% yearly, however the workforce is only growing by 3%. This gap is continuously growing. Her company aims to reduce this gap by providing real time access to genetic counseling. Anderson also predicts within 5 years every cancer patient will have germline and somatic sequencing.
Andrew Ury, Chief Executive Officer and Founder of ActX, explained how direct-to-consumer genetics can be used for a potential screening for drug compatibility (pharmacogenomics). 90% of patients have potential drug genomic interactions. This is especially useful for mental health medications.
An announcement/reminder that the first Genetic Counseling Awareness day will be on November 9th. Follow activities with #IAmAGeneticCounselor and on National Society of Genetic Counselor’s website. | |||
17 Nov 2017 | #70 Heather Z on Cowden Syndrome | 00:27:00 | |
Heather Z is a patient advocate with two rare brain tumors and a hereditary cancer syndrome called Cowden Syndrome. On this episode she shares her journey from first symptoms, to genetic testing and eventually diagnoses and surgeries. Heather has a PTEN mutation which officially diagnosed with Cowden Syndrome. She offers insight on what she has learned through these challenges including how to helps others with hereditary cancer syndromes and rare diseases. Hereditary cancer syndromes evaluate one's risk to develop certain cancer depending on what mutation they have. For Cowden Syndrome this includes cancer of the breast, thyroid and endometrium (lining of the uterus). Most people with Cowden Syndrome develop hamartomas. These are noncancerous growths found on the skin, mucous membranes (such as the lining of the mouth and nose), and intestines. If you would like to hear/read more from Heather, check out her GoFundMe, blog, Twitter and Instagram. | |||
01 Dec 2017 | #71 Eleanor Griffith on Genetic Counseling Grad School Applications | 00:31:40 | |
Eleanor Griffith, MS, CGC is a board certified genetic counselor and the founder of Grey Genetics, a genetics counseling and consulting company. Her clinical experience includes both prenatal and cancer genetics, in both public and private academic hospital settings. She is the Treasurer of the NYS Genetics Task Force and a member of the Admissions Committee for The Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College, where she also received her M.S. in Human Genetics
We discussed how students can have a competitive application for genetic counseling graduate schools. Eleanor shares her insight on the components of an application including prerequisites, personal statements, experiences (genetic counseling job shadowing, advocacy, laboratory work, counseling), and letters of recommendation. She provides an overview of what a typical interview day looks like at Sarah Lawrence and more information on what the Sarah Lawrence genetic counseling program specifically provides students. She also talks about her background as an English major, why she pursued genetic counseling and continues to love the profession.
Here’s a complete list of all the accredited genetic counseling graduate programs in North America. Students can also find genetic counselors to job shadow and interview at FindAGeneticCounselor.com.
Stay updated on Eleanor’s private practice on Instagram, Twitter and Facebook. And don’t forget to follow my new account on Instagram, @DNAradio. | |||
15 Dec 2017 | #72 Megan Maxwell on Genomes2People | 00:28:30 | |
Megan Maxwell explains her role as a research genetic counselor. She has experience in clinical, laboratory, sales, educational, and research settings. She is currently a Genetic Counselor Project Manager for The MilSeq Project at Lackland Air Force Base in San Antonio, TX. This research is conducted under the Genomes2People (G2P) Research Program at Brigham and Women’s Hospital, Harvard Medical School, which is focused on the medical, behavioral, and economic implications of translational genomics and personalized genomic medicine, and the Air Force Personalized Medicine Program. Megan earned her BS in Human Biology from University of California, San Diego (UCSD) and her MS in Genetic Counseling from California State University, Northridge (CSUN).
If you are interested in finding a genetic counselor as a patient or student, go to findageneticcounselor.com or aboutgeneticcounselor.com to learn more about the field.
Stay updated with Megan on Twitter and LinkedIn. And don’t forget to follow my new account on Instagram, @DNAradio. | |||
05 Jan 2018 | #73 Jenna Guiltinan on Laboratory Genetic Counseling | 00:28:00 | |
Jenna Guiltinan is a laboratory genetic counselor. She received her Master’s in Genetic Counseling from California State University Stanislaus in 2013. Jenna worked at Ambry Genetics as a reporting genetic counselor for over four years. However, she recently left her position at Ambry to pursue a new laboratory position. As a laboratory genetic counselor, she helps interpret and report genetic test results.
In this episode we discuss a subfield of genetic counseling, working in the laboratory. Jenna shares how her position differs from a “traditional” genetic counselor who meets directly with patients. She also provides insight on why more genetic counselors are pursuing careers in the laboratory setting.
Jenna explains the types of tests run to identify genetic variants and what areas of healthcare utilizes these tests. The data produced from the tests needs to be interpreted, the genetic variants need to be classified. Jenna offers her insight on how much research is needed to support a classification and what a patient can do with this information. Variants of Unknown Significance (VUS) can pose a challenge when interpreting this data. If you would like to hear/read more from Jenna, check out her Twitter and LinkedIn page. She also welcomes student contact and can be found on FindAGeneticCounselor.com along with many other genetic counselors for both students and patients. | |||
19 Jan 2018 | #74 Antonio Maltese on Huntington’s Disease | 00:27:00 | |
After having a family history of Huntington's Disease, Antonio Maltese was pre-symptomatically genetically diagnosed with the disease himself. This diagnosis has motivated Antonio to become a fierce patient advocate with big plans to change the future of people with Huntington’s disease.
Huntington’s Disease is progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability. This neurodegenerative disease is caused by an excess of CAG repeats in the Huntingtin gene (HTT). Unaffected people have this DNA sequence repeated 10 to 35 times. Those that may be affected have 35-39 repeats and those with over 40 repeats will develop Huntington’s Disease.
This disease is inherited in an autosomal dominant pattern, meaning if a parent has Huntington’s Disease their child has a 50% chance of inheriting the disease. Antonio shares about his paternal grandmother who had Huntington's Disease and why he decided to pursue genetic testing.
The biggest breakthrough in neurodegenerative diseases for 50 years recently occurred, 46 patients had their Huntington genes silenced at the University College London as part of a research study. Antonio I and discuss the impact this could have on Huntington's Disease and other neurodegenerative diseases.
Antonio shares the resources he has benefited from including HDBuzz and the blogs where he has collected his research for others: huntingtonsinitiative.blogspot.com and chuffed.org.
Don't forget to follow the show on Instagram, Twitter, and Facebook! | |||
02 Feb 2018 | #75 Eden Lord on My City Med | 00:25:00 | |
We are kicking off Rare Disease Month, which leads up to Rare Disease Day (February 28th, 2018).
My guest is Eden Lord, Co-Founder and CEO of My City Med. The company is an online health and medical resource site that allows patients to search for a doctor and read reviews, and also connect with non-profit resources and online community support groups. On the show, Eden explains how both patients and physicians can benefit from My City Med’s services and resources. She also provides insight into creating MobiMedQR.com a service that allows patients/caregivers to create a medical profile accessible through QR codes.
My City Med and MobiMedQR were inspired by her own family’s needs to navigate the healthcare system. Eden is a mom to kids with rare diseases and during the episode, she shares her role as a caregiver and the journey her family has been through. She is also an advocate pursuing legislation to advance rare disease research.
Attend a Rare Disease Day 2018 event! If you are in Connecticut, join me at the two events. The first is Quinnipiac University’s event on their North Haven Campus on 2/27 at 1 pm or an event in Hartford on 2/28 at 8:30 am in the Legislative Office Building. Not in Connecticut? Find a local Rare Disease Day event here. | |||
16 Feb 2018 | #76 Amy Sturm on Cardiac Genetic Counseling | 00:29:30 | |
To raise awareness for February Heart Month, I am joined by Amy Sturm, a cardiovascular genetic counselor. She has 15 years of experience in cardiovascular genetics, personalized genomics, research, and education. Amy is the Director of Cardiovascular Genomic Counseling and Professor at Geisinger Health System's Genomic Medicine Institute. There she provides leadership for the scaling up of genomic counseling efforts in the MyCode Community Health Initiative. She serves as the President-elect and the Cardiovascular Genetics Expert at National Society of Genetic Counselors (NSGC). Amy also works with The Familial Hypercholesterolemia Foundation and The Sudden Arrhythmia Death Syndromes (SADS) Foundation on their important advocacy work, research, and medical education programs.
On this episode, we discuss….. Roles of a cardiovascular genetic counselor Inherited cardiovascular diseases Familial Hypercholesterolemia Long QT Syndrome Red flags for an inherited cardiovascular disorder in a family history Genetic testing including the cascade screening method Preventative treatments for patients with a positive testing Importance of testing children Notifying at-risk relatives of patients
To learn more from Amy, follow her on Twitter and read a few of her blog posts below: Am I at Risk for Heart Disease? Familial Hypercholesterolemia: The Common, Inherited Cause of Heart Disease Rarely Talked About
Curious about the patient perspective in cardiac genetic testing process with a genetic counselor? One of her patients also wrote about his genetic testing experience guided by Amy. Stay updated on new episodes and activities of DNA Today via Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com. | |||
02 Mar 2018 | #77 Rare Disease Day 2018 | 00:25:20 | |
February 28th, 2018 was Rare Disease Day! Rare Disease Day is an opportunity to raise awareness for 7,000+ rare diseases and the 30 million Americans who are affected by a rare disease(s). There were events held worldwide to raise awareness. The theme for this year's Rare Disease Day is "Research" and the important role that patients play in gaining an understanding of rare diseases and developing innovative treatments or cures. This year's slogan is "Patients are not only subjects but also proactive actors in research." This episode features a couple interviews with presenters, who I caught up with at the end of the Rare Disease Day event in Hartford, CT in the Legislative Office Building. This specific event is one I have attended for a few years and provides an opportunity for patients, caregivers, medical professionals and industry representatives to come together and educate elected officials about rare diseases, and what it’s like to live with or care for someone with a rare disease in the state.
A main focus of the event was newborn screening, including the addition of Pompe Disease and Mucopolysaccharidosis Type 1 (MPS1) for Connecticut. Connecticut covers over 60 diseases, while most other states only cover ~40 diseases.
A young man named Hunter Pageau spoke about his extremely rare disease, SMARD, Spinal Muscular Atrophy with Respiratory Distress. SMARD is an aggressive respiratory/neuromuscular disease causing paralysis and inability for patients to breathe on their own. And 1 of only 12 people in the United States, and of 80 worldwide, with SMARD. Being the trailblazer he is, he started YES, the young empowerment society for kids. He is a true inspiration and leader!
Going with the theme of this year’s Rare Disease Day, researchers shared how vital funding is to their research and the cascade effect initial funding can have. Stormy Chamberlain, PhD, a researcher at UCONN who focuses on Angelman Syndrome, explained how the Connecticut Stem Cell Research Fund led to NIH funding and partnerships with pharmaceutical companies such as Alexion. Presenting alongside her was Jim Kubicza, a father of a child who has Angelman Syndrome. As a fierce patient advocate, he joined the Angelman Syndrome Foundation to help raise some of this research money. He also shared some aspects of being the father of a child with a rare disease, including the burden of expensive seizure medication, full-time supervision of his son, and fighting for basic needs for his son at school. He shared more in our interview in this episode.
There was also a family with a daughter who has Dravet Syndrome. Beth Fox shared about her daughter's 250 unconscious seizures, despite trying multiple different medications, and their battles with her insurance company for coverage. In a cute moment, her daughter joined her at the podium, excited to introduce herself.
Jean Kelley also spoke as a patient advocate. Her son Brian has a rare neurological disease called Adrenoleukodystrophy (ALD) for which she started an organization, Brian’s Hope. She shares more during her interview in this episode.
Senators and Representatives also spoke about their support for rare diseases including the Connecticut Rare Disease Task Force. This bipartisan group focuses on newborn screening, insurance issues, support services in school systems among other topics. It takes 2.5 billion dollars and 12 years to develop a drug, so we need to give tax credits to companies so they have incentive to come to Connecticut for their research, which then helps the state. It’s fantastic that an event like this can bring legislators into the conversation so we can take action to help families with rare diseases.
For more information about Rare Disease please visit NORD’s rarediseases.org and check out the other episodes about rare diseases including previous Rare Disease Days. | |||
16 Mar 2018 | #78 Pawel Buczkowicz on Gene42 | 00:30:00 | |
My guest joining me for this podcast episode is Dr. Pawel Buczkowicz. He is the Chief Medical Affairs Officer and the VP of Business Development at Gene42. He received his PhD in cancer genetics and molecular pathology from the University of Toronto. His research has been published in leading medical journals such as Nature Genetics. His discovery of novel mutations in human cancers and their associated clinical correlates, have led to a new World Health Organization classification that was implemented for paediatric gliomas in early 2016. Dr. Buczkowicz is passionate about improving healthcare experiences for both the patient and doctor and believes smart and efficient software will revolutionize the way medicine is practiced.
On this episode, we discuss… Gene42’s Products: PhenoTips, PhenoTips Genomics, and OncoTips How clinicians/researchers use electronic health records Future of electronic health records in healthcare Importance of open-source databases Research on Diffuse Intrinsic Pontine Glioma (DIPG)
You can follow Dr. Pawel Buczkowicz (@pbuczkowicz) and Gene42 (@gene42inc) on Twitter.
Stay tuned for the next new episode of DNA Today on April 6th, 2018 where I will be discussing the human microbiome with Bibaswan Ghoshal! New episode are released on the first and third Fridays of the month. See what else I am up to on Twitter (@DNApodcast) , Instagram(@DNAradio), Facebook (@DNApodcast) and iTunes. Questions/inquiries can be sent to info@DNApodcast.com. | |||
06 Apr 2018 | #79 Bibaswan Ghoshal on the Human Microbiome | 00:29:33 | |
Joining me on this episode is Bibaswan Ghoshal. He is a Senior Bioinformatician at the Lunenfeld Tanenbaum Research Institute of Mount Sinai Health System in Toronto. He has his Master’s of Science in Medicine and finishing his PhD in Bioinformatics, Animal Microbiome and Agriculture from the University of Alberta.
On this episode we discuss… The number of microbes in inside us and how they help us Factors/technology that impacted the start of this new field Differences between studying the human microbiome and genome Techniques/technologies used to study the microbiome Human Microbiome Project Healthy microbiomes Factors that affect microbiomes Variations between people’s microbiomes Microbiome research Role of a bioinformatics analyst in microbiome research
Learn more about the microbiome through the University of Utah’s free interactive modules.
You can follow Bibaswan on Twitter @bibaswanghoshal and read his blog at worldofbiba.wordpress.com. Check out the books Bibaswan recommends during the episode: Brain Maker by Dr. David Perlmutter and I Contain Multitudes by Dr. Ed Yong.
Stay tuned for the next new episode of DNA Today on April 20th, 2018 where I will be interviewing Rafi Mendelsohn about a free DNA test for adoptees and biological families to be reunited. It's offered through April through MyHeritage's DNA Quest.
New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com | |||
20 Apr 2018 | #80 Rafi Mendelsohn on DNA Quest for Adoptees | 00:25:06 | |
Rafi Mendelsohn is the Director of Public Relations and Social Media at MyHeritage. MyHeritage is the largest family history and DNA company that helps consumers to discover their ethnic origins and find new relatives. Their new pro bono initiative, DNA Quest, is currently helping adoptees and their birth families reunite through genetic testing, which we explore in this podcast episode. This offer is only available through the end of April 2018! Apply today for one of 15,000 free DNA kits. Learn more on MyHeritage's blog.
On This Episode We Discuss: -How the project started -Who is eligible and how to apply for this free testing -What is required for the testing -The timeline of the project -The number of people who find their biological relatives through MyHeritage -Information provided in the MyHeritage results -New updates and innovations from My Heritage
Don’t forget that April 25th is DNA Day! Check out my episode all about the history of the day and other fun facts. Stay tuned for the next new episode of DNA Today on May 4th, 2018 where I will be interviewing patient advocate Irina Brook about her BRCA2 mutation and hereditary breast cancer. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com. | |||
18 May 2018 | #82 Smith Family Clinic on Whole Genome Sequencing | 00:30:44 | |
A panel of guest from Smith Family Clinic for Genomic Medicine in Huntsville, Alabama joins me for this episode exploring the power of whole genome sequencing for patients with undiagnosed diseases.
On This Episode We Discuss: Whole genome sequencing (WGS) vs exome sequencing Qualifications for patient to receive WGS Next steps after a “negative WGS” Value of WGS for patients not seeking a diagnosis Hero fund to help families afford testing Predictions of the future use of WGS Genetic counselors role at the clinic Approach to explain testing to patients Next steps for an untreatable/incurable diagnosis Interesting case studies Incidental and secondary findings from WGS
Dr. David Bick is a board-certified clinical geneticist and clinical molecular geneticist with over 20 years of clinical experience. He sees patients and families who are struggling with a rare undiagnosed or misdiagnosed disease, and are considering genetic testing - specifically, whole genome sequencing.
Carol Aiken is a certified medical practice administrator with the Professional Association of Healthcare Office Management (PAHCOM). She has over 30 years of medical practice administration experience across multiple physician practice specialties and hospitals.
Meagan Cochran is a board-certified genetic counselor with clinical experience in pediatrics, adult medicine and genomics. As one of the genetic counselors at Smith Family Clinic she works with patients and families to understand the role of genomic medicine in healthcare and help them to incorporate this new information into their decision making processes.
Follow Smith Family Clinic on Twitter, Facebook, Instagram, and visit their website for more information.
Stay tuned for the next new episode of DNA Today. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com. | |||
04 May 2018 | #81 Irina Brooke on BRCA2 | 00:25:18 | |
Irina Brooke joins me for this podcast episode. She is an patient advocate with the mission of supporting people with BRCA mutations and educating the public on this testing and how it can empower healthcare decisions.
On This Episode We Discuss… Deciding to pursue genetic testing and results Qualifications for having a strong family history of ovarian, breast and/or prostate cancer The risk of passing on a BRCA mutation to a child Males inheriting gene mutations Genetic counseling process and experience Cancer development risk level for people who have BRCA gene mutations Beyond BRCA, additional gene mutations that increases one’s risk for developing cancer Options for preventing and monitoring cancer Recovering from breast cancer Support systems available Getting involved in the patient advocacy community BRCA community terms (previvor, mutantvivor, etc.) Advice to those with family history of cancer and those who have a BRCA mutation
Check out Irina’s Instagram, Facebook page, and Facebook group for women in the hereditary breast and ovarian cancer community with mutations (BRCA etc.). She also shares her journey on her website’s blog.
Stay tuned for the next new episode of DNA Today on May 18th, 2018. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com. | |||
01 Jun 2018 | #83 Alex Ille on Alzheimer’s Disease | 00:19:20 | |
Alexander Ille, the Director of the Genome Cure Organization, joins me on this podcast episode. He received a Bachelors of Science from University of Waterloo and is currently a graduate student at D'Youville College, actively participating in genetic research. He also wrote a book, “The Genome Cure: The Future of Medicine for Alzheimer's, Cancer, Diabetes and more”.
Alex founded the Genome Cure Organization in 2016 and is enthusiastic about genomic research and its medical implications. This mission of his organization is to push towards finding cures for a multitude of diseases through the advancement of gene therapy and gene editing.
On This Episode We Discuss: Hereditary component of Alzheimer's Disease Prevalence of Alzheimer’s Disease in the populations and how many people affected Treatment options for people with Alzheimer’s Disease Genome Cure Organization’s efforts to make a difference in the Alzheimer’s Disease Recent research published about Alzheimer's The process of researching new treatments and a potential cure Length of phases Funding required Key players/institutions in the research Current clinical trials Ways the public can get involved
Learn more about Genome Cure Organization on their website and Instagram.
Stay tuned for the next new episode of DNA Today on June 15th, 2018. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com. | |||
15 Jun 2018 | #84 CRISPR Bioethics | 00:34:04 | |
In this podcast discussion we peek into the world projected by J.D. Lasica in his new genetics thriller novel, Biohack. We consider and debate a few ethical issues that arise in the book focusing on the potential implications CRISPR has for our future.
J. D. Lasica is an author, Silicon Valley entrepreneur and public speaker. He spoke at the United Nations in 2012 about how to use social media to combat global poverty, and he has given talks on four continents. His new book Biohack is a high-tech genetics thriller.
Dr. Katie Hasson, is the Program Director on Genetic Justice at the Center for Genetics and Society. She was an assistant professor of sociology and gender studies at the University of Southern California. She has researched and written on reproductive technologies and women’s health.
On This Episode We Discuss: The genetics thriller novel Biohack and the bioethical issues it raises Potential scientific advances with CRISPR technology The bioethical implications of those advancements Which countries these advances are most likely to occur The bioethical debate change between PGD embryo selection and CRISPR edited embryo, prior to in vitro fertilization Potential restrictions on which genes can be manipulated, disease related vs physical traits
Want to delve further into the bioethics of CRISPR? Check out this article from guest Dr. Katie Hasson about designer DNA not being just for designer babies. Another interesting article that complements our discussion in the podcast is Nathaniel Comfort’s “Can We Cure Genetic Diseases Without Slipping Into Eugenics?” Intrigued by our conversation about a child having three biological parents (this is not science fiction) Leah Lowthrop wrote articles about the impact in the fertility industry and the slippery slope this technique could become. Genetics and Society has many more articles to explore!
If you are one of the first ten people to sign up for JD’s J.D.’s Best of Indie email list you will receive a free copy of the “Biohack” ebook plus the Hacked Celebrity Files, a full-color PDF outlining Hollywood celebrities and historical figures targeted by the biotech company in the novel. Can’t wait to see if you have won? Buy the book on Amazon for $1 or read it for free through amazon Kindle Unlimited.
Be sure to give both J.D. Lasica and Genetics and Society a follow on Twitter.
Stay tuned for the next new episode of DNA Today on July 6th, 2018. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com. | |||
06 Jul 2018 | #85 Sarah McAnulty on Squids | 00:26:30 | |
Sarah McAnulty is a squid biologist and science communicator. She founded Skype A Scientist, matching classrooms with scientists for QnA sessions. Sarah is also a Ph.D. Candidate and Scientist at the University of Connecticut. She studies squids and their symbiosis with bioluminescent bacteria.
On This Episode We Discuss: Skype A Scientist Effect ways to communicate science Differences between squid species, which ones Sarah works with Squid research goals The symbiosis relationship between the squid and bacteria Squid’s blood, microbiome, and immune system Sarah’s inspiration to pursue a squid research career Advice/resources for students interested research
Sarah is very active on Twitter and Instagram providing squid fun facts, videos, pictures and really everything cephalopod related. She also has a Tumblr, Youtube page and website for even more information. Stay tuned for the next new episode of DNA Today on July 20th, 2018. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com. | |||
20 Jul 2018 | #86 Dr. Michael Fossel on the Telomere Theory of Aging | 00:29:55 | |
Dr. Michael Fossel is the world’s foremost expert on the clinical use of telomerase for age-related diseases. In 1996, he wrote the first book on the telomerase theory of aging, Reversing Human Aging, and has published the sole medical textbook on the topic. Most recently he published The Telomerase Revolution which was named one of the five best science books of the year by the Wall Street Journal.
Dr. Fossel earned his PhD and MD from Stanford University, where he taught neurobiology and research methods. He has lectured at the National Institutes of Health and the Smithsonian Institution and has appeared on Good Morning America, CNN, BBC, and NPR among others. He is currently working to bring telomerase to human trials for Alzheimer's disease with his company, Telocyte.
On This Episode We Discuss… Telomere theory of aging Age related diseases telomerase potentially prevent/treat Telomerase product effects on cancer prevention Common misconceptions of aging Changing public perspective on the potential of reversing aging Role of family history in longevity Recent aging/telomerase research CRISPR’s use with telomerase Scientifically validation of current anti-aging products
Learn more on Michael Fossel’s website. I also recommend his book, The Telomerase Revolution. Stay tuned for the next new episode of DNA Today on August 3rd, 2018. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com. | |||
03 Aug 2018 | #87 Genetic Counseling Grad School Apps (Part 1) | 00:32:00 | |
A panel of four incoming genetic counseling graduate schools discuss the application process. This is part one of two podcasts, discussing how to gather the experience and classes to have a competitive application. Early next year (2019) we will also release a follow up episode focusing on the second part of the application process: interviews, ranking and matching. We also surveyed over 50 incoming genetic counseling students (enrolling Fall 2018) who went through the last application process, which was also the first time the Match System was used. Their feedback has been summarized on the blog post with this episode on DNApodcast.com. We hope prospective and applying students find this summary and episode helpful! The Incoming Genetic Counseling Student Panel Kira Dineen hosts DNA Today: A Genetics Podcast (and radio show), which was founded in 2012 and features over 85 episodes interviewing genetic counselors, patient advocates and other genetic experts. The show was nominated in the 2015 and 2016 Podcast Awards. She is the Communications Lead at My Gene Counsel, a digital genetic counseling company. Kira is also a member of National Society of Genetic Counselors’ Digital Ambassador Program (aka #NSGCGenePool). She received her Bachelor's of Science degree in Diagnostic Genetic Sciences with a concentration in Cytogenetics at the University of Connecticut. Kira is excited to be in Sarah Lawrence College’s Genetic Counseling Class of 2020. Brynna Nguyenton will be a first year genetic counseling student at The Keck Graduate Institute. She earned her BS in Biology with a minor in Cognitive and Behavioral Neuroscience from San Diego State University in 2016. Brynna’s professional interests include accessible healthcare, neuropsychiatric and cancer genetics, and promoting scientific literacy and education in the community. She is also the lead staff contributor of the genetic counseling blog, Maps and Genes. Outside of genetic counseling, she enjoys thrift shopping, traveling and trying new foods, and spending time outdoors with her Husky/Shepherd puppy, Kenobi. Katie Church is a member of the 2020 Genetic Counseling class from The University of Alabama at Birmingham. Originally from Colorado, in 2017 she graduated with a Bachelors of Science in Biology with minors in Psychology and Spanish from the University of Nebraska-Lincoln. Throughout undergrad she spent time volunteering with adaptive recreation and a domestic violence hotline, helping with research, shadowing various genetic counselors, and staying active in her sorority. Post graduation she worked as a research assistant in a fly genetics lab and a high school cheer coach. Brianna Van den Adel was born and raised in the small northern town of Kitimat, B.C., Canada. She received her Bachelor of Science in Biochemistry & Molecular Biology and Psychology at The University of Northern British Columbia in 2017. With her recent acceptance into the Master of Genetic Counseling program at The University of British Columbia, she looks forward to completing her degree and working towards introducing the field of genetic counseling to Prince George, and serving the northern communities of British Columbia. On This Episode We Discuss: Overall Application Timeline Cost of our Application Processes Preparation for Applications & Helpful Resources Prerequisites, Extracurricular Activities & Recommended Experiences Finding Genetic Counselors to Shadow Writing the Personal Statements Letters of Recommendation: How Many to Request & Who To Ask Differences Applying as an International Student (Outside US) Deciding Schools: Features to Focus on & Number to Apply to Stay tuned for the next new episode of DNA Today on August 17th. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries about the application process for the four of us can be sent to info@DNApodcast.com. Interested in getting in contact with a current student at a specific school? Shoot us an email and we will work our networks to try and connect you! | |||
17 Aug 2018 | #88 Ira Pastor on Regeneration | 00:29:15 | |
Ira S. Pastor is the CEO of Bioquark, a life sciences company, developing proprietary combinatorial biologics for the regeneration and repair of human organs and tissues. Ira has over 30 years of pharmaceutical experience. He serves as a board member at multiple companies and organizations including RengerAge, the Reanima Project, The World Academy of Medical Science and the World Economic Forum’s Human Enhancement.
This Episode We Discuss… Regeneration and repair of human organs and tissues Natural regenerative capability of humans Effect of age Potential role of telomerase Bioquark’s area of focus in regeneration Conditions that could potentially benefit from regeneration research Genetics role in regeneration Research on animals regenerative abilities Growing organs outside the human body and its impact on the organ donor system Somatic reversion and how it differs from other gene therapies
Learn more on Bioquark’s website and stay updated by following them on Facebook.
Stay tuned for the next new episode of DNA Today on September 7th, 2018. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.
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07 Sep 2018 | #89 Dr. Andrew Ury on Electronic Health Records | 00:26:00 | |
Dr. Andrew Ury is the CEO and Founder of ActX, one of the leading companies in electronic health record integrated genomic decision support. He previously founded and was CEO of the first commercial electronic medical record company, Practice Partner. He is also the co-founder of one of the leading practice-based research networks, PPrNet. Dr. Ury helped found and was twice the vice-chair of the Electronic Health Record Assoc (EHRA). He is a graduate of Stanford Medical School.
This Episode We Discuss: Definition of Electronic Health Records (EHRs) EHRs History, Evolution and Future Dr. Ury’s Perspective as a Founder of the Technology Current EHR Methods and Systems ActX’s Role in Integrating EHRs in Genomic Decision Support Direct-To-Consumer (DTC) Genetic Testing Focused vs Broad Screening FDA Regulation on DTC Genetic Testing Pharmacogenomics and Testing Future Predictions of Integrated Personalized Medicine and Patients’ Role
Want to learn more about ActX? Check out their website, Facebook page, and Twitter account.
Stay tuned for the next new episode of DNA Today on September 21st. New episodes are released on the first and third Fridays of the month. Can’t wait? There are 88 other episodes to explore in the meantime.
See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com. | |||
21 Sep 2018 | #90 Erica Ramos on NSGC | 00:38:30 | |
Erica Ramos is the 2018 President of the National Society of Genetic Counselors (NSGC). She builds products, programs and strategy in the genomics and genetic counseling arenas with expertise in rare disease and predictive genome sequencing. Erica is currently director and head of Clinical & Business Development for Geisinger National Precision Health.
This Episode We Discuss: Elevator Pitch of Genetic Counseling Ramos’ Career Background Goal of NSGC Ramos’ role as President of NSGC Biggest Challenges in the Genetic Counseling Field 2018 NSGC Professional Status Survey Executive Summary Available to Public 94% of GCs who took part in NSGC’s 2018 professional status survey reported being satisfied with the profession. An average full-time GC earns a salary of $88,000 USD. There are over 4,600 certified GCs in North America, this is an increase of 95% compared to the number just 10 years ago in 2008. There are 43 accredited graduate level training programs in North America. Growth rate of the career between 2016-2026 is 29%, the average for all occupations is 7%. 2017 NSGC Member Benefits, Needs and Satisfaction Survey Annual NSGC Conference, November 2018 in Atlanta, (See you there!) Resources NSGC Provides Genetic Counselor and You Webinar Series NSGC Podcast Series: Leading Voices in Genetic Counseling NSGC Digital Ambassadors (aka The Gene Pool) Twitter List with all of us listed
For updates from Erica Ramos, follow her on Twitter. And explore some of the resources above that NSGC provides the public.
Stay tuned for the next new episode of DNA Today on October 5th, 2018. New episodes are released on the first and third Fridays of the month. Can’t wait? There are 89 other episodes to explore in the meantime.
See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to Kira at info@DNApodcast.com. | |||
19 Oct 2018 | #92 Dr. Erin Young on Pain Genetics | 00:23:37 | |
Dr. Erin Young discusses the role genetics play in pain susceptibilities. She is an Assistant Professor of both the School of Nursing and Genetics and Genomic Sciences at the University of Connecticut. Her career has been focused on studying genetic contributions to pain susceptibility, for which she has published numerous papers sharing her findings. She received her BA at Wesleyan College, and her MA and PhD at Kent State University. She also completed two postdoctoral fellowships, at Texas A&M University and the University of Pittsburgh Center for Pain Research.
This Episode We Discuss The Role Genetics Plays in our Experience of Pain Why People have Differences in Pain Responses Genes and Pathways Involved in Pain Environment Factors Affecting Pain Susceptibility Somatic vs. Visceral Pain Behaviors Pain Mechanisms Behind Inflammatory Bowel Disease (IBD) Animals Models Used and Translating Findings to Human Pain Opportunities for Integrating Genetic Analysis into Precision Healthcare Initiatives
To learn more about Dr. Erin Young, check out her profile on UCONN’s InCHIP and School of Nursing website. Dive more into her research explore painresearch.uconn.edu and read one of her publications on the topics we discussed, “Genetic Basis of Pain Variability: Recent Advances”. To stay updated with Dr. Young, check out her LinkedIn and Twitter profiles.
Stay tuned for the next new episode of DNA Today on October 5th, 2018. New episodes are released on the first and third Fridays of the month. Can’t wait? There are 90 other episodes to explore in the meantime.
See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to Kira at info@DNApodcast.com. | |||
02 Nov 2018 | #93 Team Telomere | 00:34:00 | |
Members from Team Telomere (formerly DC Outreach), a community for telomere biology disorders join me for this episode. This panel includes patient advocate Katie Stevens, Dr. Sharen Savage, and Dr. Suneet Agarwal. They provide information and support services to families worldwide who are affected by these disorders, encourage the medical community’s research in finding causes and effective treatments, and facilitate improved diagnosis by educating medical providers.
Katie Stevens is the Executive Director of Team Telomere. Her oldest child, Riley, is affected by a telomere disorder. Katie’s goal is to be an advocate and resource. She is also a member of Global Genes Foundation Alliance Advisory Council and a NORD member leader.
Dr. Sharon Savage is the Chief of the Clinical Genetics Branch in the Division of Cancer Epidemiology and Genetics at the National Cancer Institute (NCI). She leads clinical, genetic, and epidemiologic studies of individuals and families at high risk of cancer. Dr. Savage’s research program in telomere molecular epidemiology incorporates population-based studies of telomere length and disease with genetic studies of telomere biology. She serves as a Medical Advisor for Team Telomere.
Dr. Suneet Agarwal completed his M.D. and Ph.D. training at Harvard Medical School. He is currently an Assistant Professor in Pediatrics at Harvard Medical School, Principal Faculty at the Harvard Stem Cell Institute and Harvard Initiative in RNA Medicine, and Staff Physician in Hematopoietic Cell Transplantation at the Dana-Farber / Boston Children’s Cancer and Blood Disorders Center. Dr. Agarwal's research and clinical work is focused on the mechanisms and treatment of genetic blood disorders. He leads a multi-center bone marrow transplant clinical trial for dyskeratosis congenita, and his lab is working on new therapeutic approaches for telomere diseases. He also serves as a Medical Advisor for Team Telomere.
This Episode We Discuss Katie’s Son’s Diagnostic Journey Dyskeratosis Congenita and Telomere Biology Disorder Prevalence Symptoms Age of Onset Associated Genes Diagnosis Process Treatments Latest Research How Team Telomere Helps Affected Families Becoming a Bone Marrow Donor > BeTheMatch.org
Stay tuned for the next new episode of DNA Today on November 2nd, 2018. New episodes are released on the first and third Fridays of the month. Can’t wait? There are over 90 episodes to explore in the meantime.
See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to Kira at info@DNApodcast.com. | |||
16 Nov 2018 | #94 Legend of Sumeria: A Genetics Graphic Novel | 00:31:33 | |
Dr. Biju Parekkadan is a Co-Creator and Scientific Director of the hard science graphic novel, Legend of Sumeria. He is a Professor of Biomedical Engineering with a research lab that specializes in cell and genetic engineering. His discoveries have been published in prestigious journals with patented inventions that have led to the foundation of several companies. He received his bachelor’s degree from Rutgers University and a doctorate from the Harvard-MIT Division of Health Sciences and Technology. In 2012, he was recognized by President Obama with an Early Career Award for Scientists and Engineers, the highest honor bestowed upon young researchers in the country. Dr. Parekkadan’s daily work in biotechnology research and education provides a unique perspective in the creation of the viable science behind Legend of Sumeria.
This Episode We Discuss: The Premise of Legend of Sumeria Inspiration to Start the Graphic Novel Autoimmunity on the Molecular/Genetic Level Conveying Scientific Concepts The Current and Future Science Behind Legend of Sumeria Genetic Privacy Future of Gene Therapy Bioethical Issues Raised in Legend of Sumeria Team Behind the Graphic Novel
Be sure to check out the graphic novel on their stunning website. Follow them on Twitter and Instagram. Don’t forget to enter the giveaway on their Instagram by commenting on the latest picture what you found interesting on this episode. The first five to follow and comment will win a complementary copy of Legend of Sumeria!
Stay tuned for the next new episode of DNA Today in two weeks. The date to be determined as the normal release date overlaps with the National Society of Genetic Counselors Annual Conference. New episodes are typically released on the first and third Fridays of the month. Can’t wait? There are over 90 other episodes to explore in the meantime.
See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to Kira at info@DNApodcast.com. | |||
05 Oct 2018 | #91 Ellen Matloff on Direct-To-Consumer Genetic Testing | 00:30:11 | |
Ellen Matloff is the President and CEO of My Gene Counsel. Ellen is the founder and former director of the Cancer Genetic Counseling Program at Yale School of Medicine.
Ellen has authored more than 50 scientific publications in the field, is an established educator, lecturer and media spokesperson and has received national awards for her ongoing patient advocacy efforts. She is an outspoken patient advocate in many areas, most notably as a plaintiff in the 2013 BRCA gene patent case that went before the Supreme Court. This decision has led to drastically lower prices of genetic testing, making it possible for more patients to afford this technology. Ellen is a Forbes.com contributor in the area of genetic counseling, testing, and digital health.
As genetic testing became more common and also more complex, she has served as the senior author on several publications since 2010, all documenting errors in the interpretation of genetic test results, from all over the US and Canada. From these experiences, Ellen created My Gene Counsel and its associated digital tools that can be used in parallel with genetic testing to help ensure that results are used accurately and effectively. These tools are scalable, affordable, are available to the consumer immediately, and on their own device, and - importantly - when your genetic test results are reclassified, or medical management recommendations change, you receive a text message or email.
Disclaimer, I (host Kira Dineen) also work for Ellen at My Gene Counsel as the Communications Lead.
On This Episode We Discuss: Defining direct-to-consumer (DTC) tests Types are available to consumers Difference between medical grade and DTC genetic tests Accuracy of DTC genetic tests What to know before choosing a DTC test Examples of when a DTC test may be more appropriate than a medical grade test and vice versa Why healthcare providers can’t afford to ignore DTC anymore Potential implications of sending a sample to a DTC company Benefits of signing up for My Gene Counsel
Check out My Gene Counsel’s website, Twitter, Facebook and LinkedIn pages for more information. Stay tuned for the next new episode of DNA Today on October 19th. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to Kira at info@DNApodcast.com. | |||
07 Dec 2018 | #95 Kieger Family on Familial Adenomatous Polyposis | 00:29:50 | |
Author Laura Kieger and her son, Dr. Alexander Kieger, share their family’s courageous, century-long struggle with a rare genetic cancer syndrome, Familial Adenomatous Polyposis.
Familial adenomatous polyposis is a rare, genetic cancer predisposition syndrome caused by a deletion mutation in the APC gene on chromosome 5. By the age of 40, nearly 99% of untreated patients will develop cancer. This is the dark shadow that has lingered over their family since at least 1911, when Mary Regan Baker was seen at Mayo Clinic in Rochester, Minnesota for symptoms of a disorder that would become commonplace in her descendants. Through deeply touching personal stories of love, heartbreak, and hope, Laura’s book, Summer’s Complaint, explores the meaning of family and how tragic loss leads to the remaking of life in the face of a rare genetic mutation.
Laura obtained a Bachelor of Arts degree from the University of Minnesota (Twin Cities) and a Master’s degree in Human Development from St. Mary’s University. Dr. Alexander Kieger is a Vascular and Interventional Radiologist at Vascular Institute of Virginia. He graduated from Drake University with a Bachelor of Arts degree in Biochemistry and Cell and Molecular Biology. He obtained his Doctor of Medicine from Northwestern University’s The Feinberg School of Medicine.
Enter the GIVEAWAY on Twitter, Facebook, LinkedIn and Instagram to WIN 1 of 10 signed copies of Summer’s Complaint. The giveaway ends on December 14 at midnight eastern time, and winners will be randomly selected. To be eligible for entry you must have a US shipping address. You can enter giveaways on all social media networks, however a maximum of one copy will be awarded to each person.
You can also buy the book directly on Amazon. Learn more about the Keiger family on Laura’s website. Stay updated by following Laura on Twitter and Dr. Alexander Kieger on Twitter and Instagram.
Stay tuned for the next new episode of DNA Today on December 21st, I interview the CEO/President of Backpack Health, Jim Cavan. Backpack Health is a mobile and cloud-based app that helps people with chronic, serious and rare health concerns better manage their health journeys.
New episodes are released on the first and third Fridays of the month. Can’t wait? There are 94 other episodes to explore in the meantime.
See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to Kira at info@DNApodcast.com. | |||
21 Dec 2018 | #96 Jim Cavan on Backpack Health | 00:26:50 | |
Jim Cavan, CEO and President of Backpack Health is featured on this episode. He has great passion for helping healthcare companies tackle systemic problems, and 20 years of executive health research and startup leadership experience. The development of Backpack Health is the result of several key goals of his, including improved access to and control of medical information, and less obtrusive collection of research data.
Backpack Health is a mobile and cloud-based app that helps people with chronic, serious and rare health concerns better manage their health journeys. The Backpack Health mission is to empower patients by making it easy for them to access, own and control all their health information to support better health for themselves, their loved ones and their communities. Just like a real backpack, the portable, multimodal, multilingual app allows users to carry around what matters most – their personalized, comprehensive medical information and documents – in one central location. Backpack Health also provides a platform for organizations to engage patients, collect up-to-date data and build communities around the globe.
On This Episode We Discuss: How Backpack Health Started Jim’s Role at Backpack Health Backpack Health’s Services for Patients and Caregivers Specific Groups to Benefit Languages and Countries Covered How Users Can Access and Edit Their Information Data Security and Sharing Backpack Health’s Role In Research Patient Advocacy and Resources
Learn more on Backpack Health’s website and stay updated with them on Twitter, Facebook, and Instagram.
Stay tuned for the next new episode of DNA Today on January 4th, 2019. This episode is part 2 of the discussion about the genetic counseling graduate school application process. In part 1 on episode #87 we discussed preparing for applications, how to apply to programs, and general advice. We also surveyed over 50 incoming students to capture more insight. I will be joined by the same panel of guest who are fellow genetic counseling students and we pick up where we left off by discussing the second half of the application process: interview, rank, and match.
The show will be shifting to a new release schedule for 2019 by releasing episodes on a monthly basis on the first Friday of every month.
See what else I am up to on Twitter, Instagram, Facebook and iTunes. As always it’s great to hear from listeners, so feel free to send your questions and inquiries to info@DNApodcast.com. | |||
04 Jan 2019 | #97 Genetic Counseling Grad School Interviews, Ranking, Matching (Part 2) | 00:34:30 | |
A panel of four incoming genetic counseling graduate schools discuss the application process. This is part two of two podcasts, discussing the second portion of the application cycle: interviews, ranking, and matching. Episode 87 was the first part of this conversation where we discussed how to gather the experience and classes to have a competitive application.
We also surveyed over 50 incoming genetic counseling students (enrolling Fall 2018) who went through the last application process, which was also the first time the Match System was used. Their feedback has also been summarized on episode 87’s blog post . We hope prospective and applying students find this summary and these two episodes helpful!
On This Episode We Discuss: Overall Application Timeline Schools Applied vs Interviews Invites Received Preparation Strategies for Interviews A Typically Interview Day Schedule Types of Interview Questions Methods to Keep Track of Schools/Interviews How the Match System Works Factors Used to Assess and Rank Programs Reasons for Our Number 1 Pick Match Outcomes
The Panel
Kira Dineen hosts DNA Today: A Genetics Podcast (and radio show), which was founded in 2012 and features nearly 100 episodes interviewing genetic counselors, patient advocates and other genetic experts. The show was nominated in the 2015 and 2016 Podcast Awards. She also hosts other healthcare podcasts including Advancing Dentistry and Insight Says: A Mental Health Podcast. Kira is the Communications Lead at My Gene Counsel, a digital genetic counseling company. She is also a member of National Society of Genetic Counselors’ Digital Ambassador Program (aka #NSGCGenePool). Kira received her Bachelor's of Science degree in Diagnostic Genetic Sciences with a concentration in Cytogenetics at the University of Connecticut. She is in Sarah Lawrence College’s Genetic Counseling Class of 2020.
Brynna Nguyenton is a first year genetic counseling student at The Keck Graduate Institute. She earned her BS in Biology with a minor in Cognitive and Behavioral Neuroscience from San Diego State University in 2016. Brynna’s professional interests include accessible healthcare, neuropsychiatric and cancer genetics, and promoting scientific literacy and education in the community. She is also the lead staff contributor of the genetic counseling blog, Maps and Genes. Outside of genetic counseling, she enjoys thrift shopping, traveling and trying new foods, and spending time outdoors with her Husky/Shepherd puppy, Kenobi.
Katie Church is a member of the 2020 Genetic Counseling class from The University of Alabama at Birmingham. Originally from Colorado, in 2017 she graduated with a Bachelors of Science in Biology with minors in Psychology and Spanish from the University of Nebraska-Lincoln. Throughout undergrad she spent time volunteering with adaptive recreation and a domestic violence hotline, helping with research, shadowing various genetic counselors, and staying active in her sorority. Post graduation she worked as a research assistant in a fly genetics lab and a high school cheer coach.
Brianna Van den Adel was born and raised in the small northern town of Kitimat, B.C., Canada. She received her Bachelor of Science in Biochemistry & Molecular Biology and Psychology at The University of Northern British Columbia in 2017. With her acceptance into the Master of Genetic Counselling program at The University of British Columbia, she looks forward to completing her degree and working towards introducing the field of genetic counselling to Prince George, and serving the northern communities of British Columbia.
Stay tuned for the next new episode of DNA Today on February 1st. As announced last month, the updated 2019 release schedule is new episodes on the first Friday of every month. See what else I am up to on Twitter, Instagram, Facebook and iTunes.
Don’t forget to check out the first part of this conversation in episode 87 where we discuss how to gather the experience and classes to have a competitive application. Questions/inquiries about the application process for the four of us can be sent to info@DNApodcast.com. Interested in getting in contact with a current student at a specific school? Shoot us an email and we will work our networks to try and connect you! Don’t hesitate, we love networking with fellow future genetic counselors. We look forward to seeing some of you at your interviews! | |||
01 Feb 2019 | #98 Lydia Seiders on Aplastic Anemia | 00:26:00 | |
To celebrate and honor Rare Disease Awareness month (February) Lydia Seiders joins me on the show. She is a volunteer Maryland State Ambassador for NORD, the National Organization for Rare Disorders, through NORD’s advocacy arm the Rare Action Network. Her daughter was diagnosed with aplastic anemia, a form of bone marrow failure. This motivated Lydia to become an Ambassador for NORD. In this role, she leads about 200 network members across the state to raise awareness for approximately 600,000 patients affected by a rare disorder. Lydia leads educational initiatives and develops state-based campaigns to increase patient awareness. She partners with advocates nationwide to act on policy impacting the rare disease community.
Lydia also works closely with the Aplastic Anemia and MDS International Foundation and the national bone marrow registry - Be the Match. She assists patients and families globally obtain reputable resources for bone marrow failure. Most recently she began collaborating with RARE Revolution Magazine, a dedicated free rare disease publication. She will help to share in the direction of the Rare Revolution movement.
On This Episode We Discuss: Her daughter, known as #EmmaStrong, diagnosis of aplastic anemia Diagnostic journey Aplastic anemia symptoms and cause NIH’s role in Emma’s treatment Current research for aplastic anemia Lydia’s role as a state ambassador for NORD Educational initiatives and campaigns for the rare disease community NORD’s resources for parents and caregivers Advice for parents and caregivers of a loved one with a rare disease
Resources Mentioned During The Show: National Organization for Rare Disorders (RareDiseases.org) When signing up, their system will link you to your state’s RAN by your zip code The Aplastic Anemia and MDS International Foundation Maryland’s Rare Action Network Facebook Page RAN is active in all 50 states, listeners can find their state to get involved Learn how to join the bone marrow registry
Learn more about Emma in this blog post part 1, part 2 and part 3. Stay updated with Lydia by following her on Twitter and connecting with her on LinkedIn.
Don’t forget to raise awareness this month (and every month) for rare diseases, especially on Rare Disease Day which is on Thursday, February 28th 2019.
Stay tuned for the next new episode of DNA Today on March 1st. New episodes are released on the first Friday of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries for my guest, Lydia Seiders, or myself can be sent to info@DNApodcast.com.Don’t hesitate, we love hearing from listeners. | |||
01 Mar 2019 | #99 Coriell Institute on Biobanking | 00:29:50 | |
Two leaders from the Coriell Institute for Medical Research join the show to discuss biobanking. Nahid Turan, Chief Laboratory Officer, and Alissa Resch, Chief Scientific Officer, lead separate aspects of the Institute scientific efforts. Coriell is known for its impact in the world of biobanking. If you’ve ordered biological materials in the past for research, there’s a good chance you’ve ordered from them before. In its 65 year history, Coriell has partnered with many federal, private and nonprofit organizations, offering expertise in the collection, processing, storage and distribution of biological materials, and in the process built one of the most diverse and important collections of biomaterials in the world. It’s because of their collection that endeavors like the Human Genome Project were possible and that the science of personalized medicine thrives today.
On This Episode We Discuss: Definition of Biobanking and Process Sample Tissue and Species Types Number of Samples Disease Representation Approach to Finding Specific Samples Research Access and Shipment Organizations, Institutions and Projects Supplied Including the Human Genome Project and the 1,000 Genomes Project! Managing Big Bio Data
To learn more about Coriell head over to their website, specifically their biobanking page. Stay updated with their latest news by following them on Twitter.
Stay tuned for the next new episode on April 5th, 2019. This will be the 100th episode of DNA Today! To celebrate I interview Carl Zimmer, a popular science writer for the New York Times and has also contributed to The Atlantic, National Geographic, Time and Scientific America. He has won the Stephen Jay Gould Prize Among many other honors for his journalism. Zimmer teaches science writing at Yale University. His books include Parasite Rex, Evolution: The Triumph of an Idea, Microcosm and his latest, She Has Her Mother’s Laugh which we will be discussing on next month’s episode. So tune back in on April 5th to hear the interview!
New episodes are released on the first Friday of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Any questions/inquiries are welcome and can be sent to info@DNApodcast.com. | |||
05 Apr 2019 | #100 Carl Zimmer on Human Heredity | 00:34:19 | |
This show is a landmark episode, number 100! I want to sincerely thank all you listeners, new and old, for tuning in. It’s been such a fantastic experience over the last 7 years to share news and interviews with you all and learn along with you. I hope you’ve enjoyed listening to the shows as much as I have have enjoyed recording and producing them.
Author Carl Zimmer joins me to discuss new and old hereditary concepts. He writes the Matter column for the New York Times and has contributed to The Atlantic, National Geographic, Time and Scientific America. He has won the Stephen Jay Gould Prize among many other honors for his journalism. Zimmer teaches science writing at Yale University. His books include Parasite Rex, Evolution: The Triumph of an Idea, Microcosm: E. coli and the New Science of Life, and his latest, She Has Her Mother’s Laugh: The Powers, Perversions, and Potential of Heredity which we discuss on this episode. She Has Her Mother’s Laugh has been named the 2018 science book of the year by the Guardian and Amazon. It was also included in 2018 book lists on The New York Times, Publishers Weekly, Kirkus Review, Mental Floss, Science Friday among others.
On This Episode We Discuss: Early History of our Understanding of Hereditary Ever Changing Definition of Hereditary Types of Hereditary including Vertical vs. Horizontal Percentage of Shared DNA (or lack thereof) between Relatives Human Interest in Ancestry
Learn more about Carl Zimmer on his website and stay updated with his writing by following him on Twitter and Facebook. You can also check out his book, She Has Her Mother’s Laugh on Amazon as well as the book he mentioned, “The Tangled Tree: A Radical New History of Life” by David Quammen. If you are interested in joining a genetic counseling book club check out Book Zebras! Their April book is Resurrection Lily by Amy Byer Shainman who I interviewed back in episode 25 of the show. If you enjoy this show, you might also be interested in the other healthcare podcasts I host and produce, Advancing Dentistry Podcast and Insight Says: A Mental Health Podcast. They are both monthly podcast where I interview experts in their respective fields. Stay tuned for the next new episode of DNA Today on May 3rd, 2019. New episodes are released on the first Friday of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com. |