The Genetics Podcast (Sano Genetics)

Dr Jessica Kissinger and her collaborators run some of the world's largest databases of multi-omic data from eukaryotic parasites. In this episode, we explore major findings in the field and Dr Kissinger's vision of large-scale interoperable datasets driving novel discoveries. Plus, Dr Kissinger shares her recent and personal experience of diagnosis with a rare disease, Ehlers-Danlos Syndrome, that puts everything into perspective.

Sonya Abraham is a clinical senior lecturer in rheumatology and a research physician at Imperial College London. We talk to her about BAME representation in clinical research and about her rheumatology research, including the role of the microbiome, and what COVID19 researchers can learn from existing rheumatology research. We talk about why diversity is important in clinical trials, and the COVID19 pandemic's impact in the BAME community. We also discuss with Sonya how people with immune conditions, like Ankylosing Spondylitis, Lupus, Rheumatoid Arthritis, and others are at greater risk from COVID19, and uncertainties around the impact of common drugs on COVID19 severity. Finally, we discuss why drugs that were originally used in rheumatology are now providing effective for COVID19 treatment.

In this episode, we welcome Julia Taravella, Executive Director of Rare Trait Hope Fund. She founded the organisation 11 years ago when her two children were diagnosed with aspartylglucosaminuria (AGU), an ultra-rare, autosomal recessive, and fatal neurodevelopmental disease. Tune in to learn about her goals for developing a gene therapy cure for the disease, her experiences as a mother raising two children with a terminal illness, and upcoming research developments for AGU.

In this episode, Patrick welcomes Caroline Wright, a leading expert in genomic medicine and Professor of Genomic Medicine at Exeter University. Listen in as they delve into the world of rare diseases, discussing the challenges in diagnosis, uses of population cohorts and, the potential of newborn screening. Caroline shares her excitement about new technologies in genomics and emphasises the importance of data sharing. Discover the significance of genetic variants and the need for cautious interpretation.

The Phlebotomist is a play written by Ella Road which imagines a future where your genetic rating influences every aspect of your life and is determined through a single blood test. We spoke with Ella to find out about her inspiration and the cross overs between modern day genetic testing and The Phlebotomist. The radio adaptation of The Phlebotomist is available now in the UK on BBC iPlayer.

Get to know a little bit more about our new scientific advisor Dr Paul Wicks. Paul has dedicated much of his career to patient-centric research and building patient communities, particularly in rare disease. Paul has spent 17 years in the digital health and online community space, 13 of which were spent as a senior leader at PatientsLikeMe.

How can precision medicine techniques be used to develop potential new treatments for genetic Parkinson’s disease? In the latest episode of our Precision Pioneers miniseries, Patrick speaks to Dr Carrolee Barlow, Chief Medical Officer at ESCAPE Bio, about the challenges of accessing genetic testing for Parkinson’s patients, how genetically guided treatments could help patients with the LRRK2 gene, and how new technologies such as wearable devices could help catch Parkinson’s cases at an earlier stage.

Welcome to The Genetics Podcast! Since 2019, we've been interviewing researchers, entrepreneurs, scientists, and experts in the field of genetics, including leaders in the field like Dr Eric Topol, Dr Daphne Koller, Dr Robert Green, Sir Rory Collins. Some of the topics that have been covered in the podcast include the latest developments in genetic research, ethical considerations in genetics, the impact of genetics on personalized medicine, and more. This podcast is for scientists, entrepreneurs, business leaders, and anyone else who wants to go deep into the latest in genomics and precision medicine.

In this episode, we’re joined by Tony Cox, CEO of UK Biocentre. After spending more than 20 years at The Wellcome Sanger Institute, where he worked on the Human Genome Project, Tony moved to UK Biocentre in January 2020 – just before the world was turned upside down by the COVID-19 pandemic. The organization pivoted to play a key role in the UK’s response effort, and under Tony’s leadership the center sequenced 33 million DNA samples in just two years. Patrick and Tony discussed receiving a phone call from the UK government, scaling from sequencing 1,000 to 100,000 samples per day, and how to manage producing five tonnes of cardboard waste on a daily basis.

In this annual round-up episode, we welcome back Dr. Veera Rajagopal to cover some of the biggest stories in genetics and precision medicine from 2023! Veera is a scientist at Regeneron with an interest in human genetics and drug target discovery in neuroscience and psychiatry. He is a prolific writer as well, both on his substack, GWAS Stories, and on twitter, @doctorveera. Join us as Patrick and Veera cover the highlights of 2023, from Veera’s personal achievements to the approval of Casgevy and understanding the impacts of studying rare variants for drug development!

Join us as we welcome two familiar faces, Dr. James Beck, Chief Scientific Officer at Parkinson's Foundation, and Dr. Ignacio “Nacho” Mata, Professor at the Cleveland Clinic and Coordinator of the Latin America Research consortium on the Genetics of PD (LARGE-PD). This pair first appeared on Episode 69 of The Genetics Podcast in September 2021 to discuss the genetics of Parkinson’s disease (PD) and the future of precision medicine. Nearly 60 episodes later, Drs. Beck and Mata are back to walk us through updates in the field of PD and precision medicine, increasing diversity in genetic studies, and the potential for prediction and prevention of PD. You won’t want to miss this insightful episode featuring two of the preeminent experts in Parkinson’s disease and precision medicine.

Our guest this week is Elin Haf Davies, who is the CEO of Aparito - a technology company that focuses on patient-generated health data. Elin is also an inspirational speaker, trans-atlantic rower and pediatric nurse. In this episode we discuss clinical trials, the use of technology in patient-centric studies and the work of Aparito.

Is Craig one of the most thoroughly DNA tested people on the planet? Quite possibly, but one thing's for sure, his company (dnatestingchoice.com) know a thing or two about a good DNA test. This fascinating discussion with Craig Macpherson explores the start of direct to consumer DNA testing, why these companies are so successful. As well as his thoughts on ancestry testing, current practices around data privacy and the future of genetic testing. 

On this episode of the podcast Patrick is joined by Robert Green, a geneticist, Professor of Medicine at Harvard, and Director of the Preventive Genomics Clinic at Brigham Health, whose work centers around accelerating evidence based implementation of genomic medicine. Through the Genomes2People research programme, Robert has led numerous randomised control trials of genetic sequencing in adults and newborns. Patrick and Robert discuss topics including testing for common complex disease risks in healthy adults, genetic testing for newborns, and what major barriers need to be overcome to realise the full potential of personalised medicine.

0:00 Intro 0:45 The founding of BioTx.ai 4:35 How do algorithms for ‘causal inference’ work? 6:30 Modeling gene interactions for genetic disorders 8:35 How to predict gene interactions 10:30 What happens after identifying a potential gene variant or interaction? 14:35 How can you use machine learning to determine causal relationships between gene variants and disease? 17:30 Deconvoluting genes and traits, and their impacts on effect size 19:20 Key ingredients in determining causal relationships: data and computational power 21:10 Limitations of using machine learning to find genetic determinants of rare diseases 24:30 Predicting clinical outcomes with Biotx.ai 28:05 Machine learning enhances efficiency in the pre-clinical phase 29:40 Population genomics in Germany 32:50 Marco’s career decisions – starting a company vs. continuing in academia 35:50 The pros and cons of industry 38:10 The gaps in industry and academia 41:20 Closing remarks

In this episode, Patrick welcomes Jean Swidler, the Founder, Executive Director, and Chair of End the Legacy. End the Legacy is a patient-led organization dedicated to articulating and supporting the needs and interests of the genetic ALS and FTD communities. If you are interested in patient advocacy or keen on learning about recent therapeutic developments for those with neurodegenerative conditions, you will want to listen to this episode!

In this episode of The Genetics Podcast, we welcome Dr. Jason, founder and CEO of Empress Therapeutics, a Flagship Pioneering company.

Andrea Ganna has been leading COVID19HG, a worldwide effort to understand the role that our genetics plays in COVID-19 infection and severity. In this episode, we discuss some of the group's findings so far and the origins of this initiative, which has now attracted hundreds of researchers from over 50 nations. Do you enjoy our podcasts? Would you like the chance to listen to them live and ask your own questions to our guest? Next week we're hosting our first ever live podcast, and we're taking registrations now! Find out more here: https://zoom.us/webinar/register/WN_sC0VSsigQhecZ75loF5HSw

This week Patrick is joined by Dietrich Stephan, Founder and CEO of NeuBase Therapeutics. They discuss how to overcome the challenges of ’un-druggable’ diseases, how Neubase is cracking the druggable genome using its scalable technology, and how biotech companies are innovating to secure the investment needed to accelerate precision medicine during a challenging period for the industry.

This week Patrick is joined by Austin Argentieri, Research Fellow at Harvard Medical School, Affiliate Member of the Broad Institute of MIT and Harvard, and Research Fellow at Massachusetts General Hospital. Austin’s work focuses on the proteomics of aging and how proteomic signatures are highly predictive for estimating biological age. From the potential of therapeutic applications, to why no “fountain of youth” genes have yet been identified, he and Patrick discuss the heritability of aging and how proteomics can help identify risk of age-related disease.

This week we talk to ‘The Girl With MS’, Caroline Craven. A Multiple Sclerosis patient advocate, Caroline has written thousands of blog posts about her journey with the condition to help others manage MS as well. They discuss options for treatment, what it’s like being a patient advocate in this space for over 10 years, and the importance of a good neurologist.

Dr. Alicia Martin, a researcher at the Massachusets General Hospital and the Broad Institute of MIT and Harvard, discusses the issues surrounding Eurocentricity in genetics studies.

In this episode, Patrick is joined by Cindy Lawley, Senior Director of Population Health at Olink Proteomics and co-host of the Proteomics in Proximity podcast. Cindy has worked with major population genomics programs, including the UK Biobank, to bring together proteomics, genomics, and deep phenotyping using the Olink platform. Olink is one of the most promising proteomics technologies on the market, and the platform has been used in >1,000 publications, including landmark work in the UKBiobank to integrate genomics and proteomics. The largest Olink assay currently covers around 3,000 proteins, and the scale continues to grow, while costs are decreasing, paving the way for larger integrated proteomic and genomic data sets in the future. Join Cindy and Patrick for this 45-minute episode as they explore: how population-scale proteomics is driving novel discoveries different proteomics technologies, cost and throughput trajectories, and what is on the horizon surprising findings from longitudinal sampling of proteins And much more. If you would like to hear more from Cindy, listen to the Proteomics in Proximity podcast when you follow the link below. https://podfollow.com/1645900688

Join us in welcoming Mavis Machirori, Senior Researcher at the Ada Lovelace Institute and co-founder of Genetics Engage (https://www.geneticsengage.org/)! With over 10 years of clinical experience as a midwife, Mavis is dedicated to promoting social justice in healthcare. Her research focuses on the impact of new healthcare technologies on social inequalities. Passionate about equity in data and genomics, she addresses the broader societal impacts of these advancements. Mavis was a guest on our Participant Diversity webinar in 2020, and we are thrilled to have her back on The Genetics Podcast at Sano!

This week we’re joined by the Director of the Neuroscience Data Science: Discovery & Molecular Group at Johnson and Johnson, and Chair of the UKBiobank Pharma Proteomics Project (UKB-PPP), Chris Whelan. Chris helps lead the UKB-PPP, a project which aims to revolutionise biomarker discovery through tying together genetic and proteomic data and which has so far gathered more than 50k biological samples. Tune in as Patrick and he discuss how proteomics could change the future of drug discovery in neurology and beyond.

Join us for our first episode of 2024 as we welcome Dr. Alex Bick, Assistant Professor of Medicine in the Division of Genetic Medicine at Vanderbilt University. In this episode, we will explore the impact of clonal hematopoiesis on cancer and cardiovascular health, examine the integration of genomics in healthcare and preventative medicine, and discuss a recent finding from the Million Veterans Program of a modifier variant in APOL1 kidney disease.

What’s it like having a disease so rare, you’re misdiagnosed? Or you’re the only one in the whole of the UK to have it? David Rose is a rare disease advocate, an ambassador for Great Ormond Street Hospital, and part of the team at Rare Revolution magazine, an online magazine dedicated to rare disease patients and their voices. He’s the only known person in the UK to have occipital horn syndrome and he tells us what it’s like to live with a rare disease - and why we should all be more aware of rare disease as a whole. David and Patrick talk about how others can try to understand rare diseases better, and how anyone can get involved with advocacy work. They also look at the changes people have made due to COVID-19, and how that affects people with rare diseases.

This week Patrick is joined by three pioneering guests united by one ground-breaking project: the UK BioBank’s Whole Genome Sequencing Project. Dr Mark Effingham, Deputy CEO of UK Biobank; Dr Kári Stefánsson, Founder and CEO of deCODE Genetics, and Professor Marylyn Ritchie, University of Pennsylvania, discuss the goals of the collaboration, it’s challenges, and the potential it has to change the future of genomics research.

We recently held an event bringing together charities and patient registries to help them take the next step in doing genetic research. One of our speakers was Neil Bennett, the Director of Research at Action Duchenne and he discussed how they set up a patient registry as well as their approach to the challenges and opportunities in doing genetic research. Action Duchenne was formed in 2001 and was the first national charity dedicated to supporting those living with Duchenne Muscular Dystrophy.

Progress in AI is accelerating, and the potential in healthcare and precision medicine is enormous. In 2019, we had the pleasure of speaking with Dr Eric Topol, author of ‘The Patient Will See You Now’ and ‘Deep Medicine’. Eric has had an incredible career which has been largely focused on researching cardiovascular disease and heart attacks, both of which he worked on in the Cleveland Clinic and Scripps Institute.  Now, we’re reposting the interview as the conversation is more relevant than ever. Join Patrick and Eric as they discuss wireless medicine and the role of artificial intelligence and machine learning in medicine and healthcare.

This first episode of 2021 sees host Patrick Short talk to three insightful guests about their predictions for research and medicine in the year ahead. In this compilation episode, Patrick talks to Jane Theaker, Phillip Beer and Jason Mellad, each experts in their field. Our guests are: Jane Theaker, the CEO of Kinomica Limited, a company at the fore of precision medicine that’s providing disruptive cell signalling technology. Jason Mellad, the CEO and Co-Founder of Start Codon a healthcare accelerator working to seed-fund truly disruptive healthcare start ups. Our final guest is Phillip Beer, a Physician scientist with expertise in clinical cancer genomics, early phase therapeutic development and biomarker discovery. Holds leadership roles in the commercial, healthcare and academic sectors.

This week, we’re joined by Ben Goldacre, a renowned doctor, academic, author, and journalist. His books include “Bad Science” and “Bad Pharma,” among others, and he is currently a Professor of Evidence-Based Medicine at University of Oxford. There, he runs the Bennett Institute for Applied Data Science which aims to pioneer the better use of data, evidence and digital tools in healthcare and policy. Patrick and Ben discuss Join Patrick and Ben for an open conversation about Ben’s choice to step back from the public eye and the power of the OpenSAFELY platform to improve security, transparency and analysis of Electronic Health Records.

This week, we welcome Dr. Mike Gaziano, professor of medicine at Harvard Medical School and the Director of the Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC). Mike is also one of two Principal Investigators of the Million Veteran Program - a national research project in the US looking at how genes, lifestyle, military experiences, and exposures affect health and wellness in veterans. This is a huge undertaking, as Mike describes this project as “the largest health system-based mega-biobank in the world". Join Patrick and Dr. Mike for a discussion on the Million Veteran Program’s research, its integration of extensive data from veterans, and its role in shaping the future of personalized medicine for the veteran community.

On this episode, Patrick is joined by Jason Mellad, CEO and Co-Founder at Start Codon, a healthcare startup accelerator that helps develop healthcare startups. Patrick and Jason discuss how Start Codon identifies new technologies and businesses that have a potential to make an impact, Jason's approach to mentorship, diversity and inclusion, and even The LAB, a science-themed cocktail bar in Cambridge that Jason co-owns.

In this episode, Patrick is joined by Alex Cagan, a Postdoctoral Fellow in the Cancer, Ageing and Somatic Mutation programme at the Wellcome Sanger Institute, specialising in evolutionary processes in somatic tissue. Tune in as Alex walks us through a fascinating new study, years in the making, looking at somatic mutation rates across 16 mammalian species, spanning 30-fold in lifespan and around 40,000-fold in body mass. This work sheds light on fundamental questions in cancer and ageing across the tree of life. 0:00 Intro 6:00 Collaborating with the London Zoo, and the challenges of sourcing tissue from long-living animals 9:06 Why are naked mole rats so important to the cancer and ageing community? 11:32 The scale and breadth of species sampled in the study 14:53 Is there a ceiling to how many mutations an organism can tolerate? 17:53 Why are intestinal crypts so effective for sequencing somatic mutations? 20:44 Key learnings from driving a 5-year study into somatic evolution 22:46 Are there really any “immortal” species, and what are they? 25:19 Why are cancer rates lower in larger species, and is this related to lower mutation rates, DNA error correction or both? 27:24 Investigating transmissible cancers in Chernobyl 29:40 Is cancer everywhere in the tree of life? 31:23 Alex talks about applying his talent for illustration to science 38:56 The Sanger Tree of Life program, the Darwin Tree of Life project, and the bright future ahead for research on somatic mutations 40:14 Outro Find out more about the study: https://www.nature.com/articles/s41586-022-04618-z

In this episode, we cover the latest genetics news stories including; 1) 23andMe’s plan to start collecting health data 2) New research that’s sounding alarm bells about the accuracy of genotyping tests 3) The largest-ever study of genetics and PTSD  4) A new $160 million round of funding for a SanFrancisco-based company working on the early detection of cancer 5) A breakthrough cure for another rare disease, amyloidosis, that’s just been approved in the UK

Access to genetic testing for patients with genetic diseases, such as ALS, can vary dramatically based on country and postcode. For an ALS patient considering genetic testing in Canada, the reality of their federally-funded healthcare system is a far cry from the general perception. In the US, genetic testing access and cost varies widely between community healthcare settings, and academic research centers. And in the UK, accessibility to genetic testing can be a simple matter of geography. In this webinar, Paul Wicks leads the discussion with Professor Ammar Al-Chalabi, Dr Patrick Short and Kristina Salmon on international perspectives on genetic testing for ALS. The lessons from this discussion apply not just to ALS, but the hundreds of other rare and common genetic diseases where access to genetic testing is a challenge for patients, healthcare providers, and researchers.

On this episode of the podcast Patrick is joined by Dr Jennifer Vena the Scientific Director of Alberta’s Tomorrow Project. Although Jennifer joined ‘ATP’ in 2018, the project itself has been running for over twenty years with research plans that extend through the next fifty years. Patrick and Jennifer discuss the history of the ‘ATP’, its goals for the future, and the role Covid will continue to play including with research studies that are not directly associated with the disease.

Human Genetics Researcher Joe Pickrell is the CEO of Gencove who offer low-pass sequencing technology which is both cost-efficient and provides highly accurate variant calls across the whole genome. Having trained as a statistical geneticist, Joe discusses his early work with Jonathan Pritchard, developer of Structure and his work at the New York Genome Center to reduce the cost of whole-genome sequencing using computational methods such as imputation. This interesting discussion covers a range of topics from low-pass sequencing to eQTL to the ways in which modern humans are still evolving.

Lasse Folkersen discusses how he started impute.me as a passion project, out of sheer curiosity to understand his own genes and to help others with the same intention and as a result, he has now sequenced his entire living family. We discuss impute.me’s stance on data privacy where users data is automatically deleted after 14 days as well as the smart way impute.me keeps costs down and keep the platform running solely from donations.

Our guest this week is Dr Yan Shao from The Wellcome Sanger Institute, a non-profit British genomics and genetics research institute. In this episode, Dr Shao discusses the findings from his most recent study; where he and his team found significant differences in the microbiomes of newborn babies depending on delivery method.

In this special episode we’re sharing Patrick’s guest appearance on Genomics England’s new podcast, The G Word. Patrick speaks to Chris Wigley, CEO of Genomics England, about his work on the Deciphering Developmental Disorders (DDD) project during his PhD and how his career has focused on the power of translation research to directly impact on and improve people’s lives.

Through combining genealogy with DNA testing, more can be discovered about family relationships - making it a powerful tool for reuniting families, and even solving cold cases. This week, Patrick interviews Debbie Kennett - a genetic genealogist at the forefront of the field. Debbie started her search in the early 2000s on a personal mission to learn more about her maiden name (Cruwys) using genealogical tools. From there, her interest in genetic genealogy has grown and she explains this innovative new method to match people. They discuss the rise of DNA databases, how Facebook is a way to find lost family members, and the ethics of using DNA to solve crimes.

In the last episode of the year, Patrick joins forces with the host of the Personalized Medicine Podcast, Oleksandr Yagensky, to discuss six of the biggest and most exciting breakthroughs in genetics research in 2021. They talk about developments including cancer testing in healthy people, newborn genetic screening, AI and machine learning, stem cells, and more.

In this episode, Dr. Mike Snyder, Director of the Center for Genomics and Personalized Medicine at Stanford School of Medicine, shares his pioneering work on health monitoring using multiomics and wearables. The conversation spans personalized aging, the challenges of implementing precision medicine in mainstream healthcare, and Dr. Snyder's vision for a future where proactive health monitoring predicts illness before symptoms appear, keeping people healthier longer. Tune in for a fascinating episode centered on preventative medicine!

Welcome to The Genetics Podcast, where Patrick interviews Dr. Andrea Gropman, Professor of Pediatrics and Neurology at George Washington University School of Medicine and Health Sciences and Chief of Neurogenetics at Children’s National Hospital. This conversation explores Dr. Gropman's extensive expertise in genetics and how its integration into clinical settings can optimise patient outcomes. We'll also discuss the importance of interdisciplinary collaboration, regulatory and ethical considerations, and the future of genetic research. Tune in for an interesting discussion on the transformative impact of genetics on contemporary medical practice and practical clinical applications.

This week, we’re thrilled to welcome Nadav Ahituv, the Director of the Institute of Human Genetics at the University of California, San Francisco. Patrick and Nadav discuss his research on gene regulation, including his intriguing work on bats and their unique metabolic adaptations – and what that means for human health. They also discuss the evolution of our understanding of genetics, from ancient DNA insights to the mechanisms driving human traits, and how these discoveries could pave the way for future therapies.

In this episode, we’re joined by Daniel O’Connor, Director of Regulatory Policy and Early Access at The Association of the British Pharmaceutical Industry. Daniel previously spent almost 18 years at the Medicines and Healthcare products Regulatory Agency (MHRA) and over his career has specialized in improving and incentivizing pathways to rare disease treatment development. Join Patrick and Daniel as they discuss orphan drug designation, the importance of international collaboration, and how unlocking new regulatory approaches to preventative medicine can help change the future of rare and ultra-rare conditions.

This week’s guest is Laurence Reid, CEO at Decibel Therapeutics. He talks to Patrick about the journey to deliver novel gene therapies to patients with genetic hearing loss and balance disorders, the future of tackling hearing issues at birth, and his experience learning about the field of inner-ear biology and taking up the role of CEO at Decibel.

This week we talk about COVID19 and what it’s really like to have the virus. Talking to Adelina Chalmers, who first started experiencing symptoms 8 weeks ago - and was admitted to the hospital 6 weeks ago - talks about how it has been mis-sold as being just like the flu. Adelina is a podcaster and runs a consultancy called ‘The Geek Whisperer’ which helps engineers and their managers communicate with each other. Going through day by day symptoms, Adelina tells us how symptoms are non linear, and how it got worse just as it seemed like she was getting better. This episode has great tips, including the importance of recording your symptoms if you start getting sick, because the more data you can give healthcare professionals, the better you can help them guide decision-making. Link mentioned in the Episode about Paul Garner’s experience: https://blogs.bmj.com/bmj/2020/05/05/paul-garner-people-who-have-a-more-protracted-illness-need-help-to-understand-and-cope-with-the-constantly-shifting-bizarre-symptoms/

Today, Jillian Hastings Ward is a leader in the 100,000 genomes project, but she and her family started off as one of the first families whose DNA was sequenced by the project in 2015. She talks to Patrick about her son, Sam, who was one of the first children in the world to be diagnosed with a rare genetic disorder due to a fault in the GRIN1 gene. They discuss Jillian's vision for the future of 'patient-powered research networks' and the CureGRIN Foundation, which has received funding from the Chan Zuckerberg Initiative.

In this week’s episode Patrick speaks to Sonya Chowdhury, Chris Ponting and Andy Devereux-Cooke from the DecodeME project, the world’s largest genetic myalgic encephalomyelitis (ME) and chronic fatigue syndrome study. They discuss the symptoms of ME, the challenges facing ME and chronic fatigue patients, the issues surrounding funding and the future of personalised treatments.

In this episode, Patrick is joined by Dr. Mazen Noureddin, Professor of Medicine and Transplant Hepatologist at Houston Methodist Hospital. Mazen also leads the Houston Research Institute and Houston Liver Institute, and he previously established the Fatty Liver Program at Cedars-Sinai. Known internationally for his expertise in non-invasive testing and biomarkers for metabolic dysfunction-associated steatohepatitis (MASH, previously known as non-alcoholic steatohepatitis or NASH) and cirrhosis, Mazen has been involved in over 40 clinical studies exploring new treatments for MASH. Don’t miss out on this insightful episode!

In this episode, we welcome Dr. Nicole Paulk, CEO and Founder of Siren Biotechnology and former professor at University of California at San Francisco (UCSF). Dr. Paulk's journey from academia to the forefront of industry innovation offers a unique perspective into gene therapy and adeno-associated viruses (AAVs). Join us as we explore the futuristic applications of gene editing!

This week, we’re joined by Lord James O’Shaughnessy, Member of the House of Lords (UK), and Senior Partner at Newmarket Strategy. In May 2023, Lord O’Shaughnessy led and published a government-commissioned review into the UK clinical trials process, producing key recommendations for policy improvements in R&D innovation. He and Patrick discuss his experience as the Minister in charge of leading the National Health Service through Brexit, and the fundamental importance of integrating R&D into the healthcare system.

This week, Patrick speaks to Heidi Rehm, Chief Genomics Officer at Massachusetts General Hospital. Heidi is a leader in defining standards for the interpretation of sequence variants and is a principal investigator for Clinical Genome Resource, otherwise known as ClinGen. ClinGen provides free and publicly accessible resources to support gene and variant interpretation. Heidi also co-leads the Matchmaker Exchange, aiding gene discovery for rare diseases.

We talk to Peter about Nightingale Health's work with the UK Biobank, including recent research that shows their blood test could be used predict severe COVID19 well before onset of symptoms. The company's vision includes not just population-scale research like the UKBiobank, but creating a system that is focused on prevention and early detection rather than treatment.

In this episode, we’re joined by Martin Borch Jensen, Co-Founder and Chief Scientific Officer at Gordian Biotechnology and President of Norn Group, a non-profit dedicated to accelerating research and development of therapies targeting the biology of ageing. Patrick and Martin discuss the phenomenon known as the “ageing problem,” how understanding biological age could crack the code on age-related diseases, and the challenges of building a company in a field with no business model blueprint.

This week on our podcast, we speak to Xing Xu from Dash Genomics and Renee George from HealthLytix about Alzheimer's disease. Dash Genomics has partnered with HealthLytix to produce a new model that helps you understand your individual risk of Alzheimer's disease. All you have to do is upload your DNA data from a consumer DNA test like Ancestry.com or 23andme. They then use research from two major universities to estimate your personalised risk for the condition.

Can the speed and success of COVID-19 trials teach us how to run other trials 5x faster going forward? Can polygenic risk scores be effectively integrated into healthcare systems? Why do 'unique datasets' hold the key to future drug discovery? And why is there a disparity between precision medicine development in cancer and all other disease areas? Dr Vineeta Agarwala, General Partner at the Andreessen Horowitz Bio Fund, answers all these questions and more as she discusses the future of biotech and genomic medicine with Patrick.

In this episode, Patrick welcomes J. Warren Huff, CEO and Chairman of Reata Pharmaceuticals. Reata is known for innovating small-molecule therapies for severe and life-threatening diseases. Listen in as Warren walks us through their approach of partnering with Universities to find scientific discoveries that could become the next generation of therapies, and Reata’s recent success developing a groundbreaking new treatment for Friedreich’s Ataxia (FA), thanks to close collaboration with patient organizations and novel use of natural history data to accelerate their clinical development. 0:00 The beginnings of Reata 2:40 Partnering with universities for breakthroughs in research 5:30 Implications of cancer prevention research on chronic diseases 11:40 Potential concerns in medical ethics and Big Pharma when developing groundbreaking treatments 13:20 Research on NRF2 and its role in treating Friedreich’s Ataxia, a genetic mitochondrial disease that leads to motor neuron decline 18:00 What is a natural history study, and how was it used in Reata’s FA clinical development? 22:50 The potential for clinical grade wearable devices 23:35 Determining clinical endpoints in clinical trials 26:00 The FDA’s approval process for rare disease treatments 32:40 Potential for expanding newborn screening programs 36:00 The generalizability of NRF2-based research to other inflammatory diseases and diseases related to mitochondrial malfunction 39:40 What is Type 3 Diabetes? 40:30 Warren’s career start as a lawyer and his journey to biotech 43:00 Searching for provocative biology 46:20 Major targets for the HSP program 48:30 Closing remarks and lessons in resiliency

We talk to Nick Sireau (co-founder of Findacure and chairman of the AKU society) about his two sons, who were both born with Alkaptonuria which is an ultra-rare genetic condition that causes the bone's surface to turn black and corrode. Nick has worked tirelessly to help establish a new clinical trial, exploring whether a chemical originally used as a weed killer could provide a treatment for this debilitating condition. So far the signs are very positive, but Nick is currently awaiting the final results which will be disclosed in September.

In this episode of The Genetics Podcast, we welcome Dr. James Field, founder and CEO of LabGenius. Join us as we delve into LabGenius' cutting-edge approach that utilises machine learning, artificial intelligence, and sophisticated robotics to advance antibody discovery and drug development. As a bonus, learn about James’ path from scientist to CEO, and how he created LabGenius.

In this episode, we welcome Jake Rubens, a seasoned genomic science entrepreneur and co-founder of Quotient Therapeutics. Tune in to hear Jake discuss the potential of somatic genomics (genes that are present in any cell in the body except for germline cells) in therapeutic development. As the founder of several companies, including Tessera and Sana Therapeutics, Jake offers his unique perspective on the advantages of utilising insights from somatic genome sequencing to understand disease mechanisms and discover new drug targets. He also shares valuable lessons from his robust entrepreneurial journey!

Genomic data, is big data - so how do we actually make sense of this huge amount of data? And why should we use 'the cloud’ to store and analyse it? We discuss how the cloud enables faster, safer, and less expensive genomic data analysis, and what the future could look like when AI is used to analyse the vast amount of human genetic data being generated. In this episode, we talk to Dr Maria Chatzou Dunford, CEO and Co-Founder of LifeBit, a company that wants to democratise analysis of genetic big data. Lifebit's platform allows researchers to analyse existing genetic data without having to copy from its original location, using 'federated data analysis' and the cloud. Lifebit's long-term aim is to not just make accessing and analysing data easier for researchers, but to develop Artificial Intelligence and Machine Learning tools to help researchers make sense of it.

From decoding the genetics of rare disease using computational methods, to understanding the non-coding and 'near-coding' genome, this week Patrick is joined by Nicky Whiffin, Group Leader at the Wellcome Centre for Human Genetics and Sir Henry Dale Fellow at the University of Oxford. They discuss what it's like to create a brand new research group and the potential impact of whole genome sequencing on diagnosis rates.

This week, we’re joined by Scott Weiss, the Professor of Medicine at Harvard University, Associate Director of the Channing Division of Network Medicine at the Brigham and Women’s Hospital, and former Scientific Director at Partners HealthCare Personalized Medicine at Mass General Brigham. Patrick and Scott discuss the challenges of integrating large-scale, longitudinal multi-omic profiling into healthcare settings, demonstrating the value of preventative initiatives to health insurance providers, and why, at 78, Scott isn’t planning on retiring from genetics anytime soon.

How do you go from a cell to a baby? This question fixated Kat Arney at the beginning of her career, and pushed her towards epigenetics ‘before it was cool’. From travelling the globe asking how genes work, to her upcoming book ‘Rebel Cell’, she discusses the world of genetics. This week, Patrick talks to Kat Arney - a geneticist and science writer demystifies genetics on her fortnightly Genetics Unzipped podcast. They discuss the difference between the male and female response to coronavirus and her work on the COVID19 tracking ZOE app.

This week’s guest is Nathalie Kingston, Director of the NIHR BioResource. She talks to Patrick about how the scale of the BioResource has grown dramatically over the last nine years, her most exciting moments as Director to date, and how the BioResource is using Sano's technology to accelerate and support its research programmes.

On this episode of The Genetics Podcast we welcome Dr. Barbara Kraatz Fortini, Associate Professor of Genetics at Keck Graduate Institute (KGI). Tune in to learn about Barbara's research on non-coding variants in colorectal cancer and the interplay between genetics and the environment on lifetime cancer risk. As the Program Director for the MS in Human Genetics and Genomic Data Analytics at KGI, Barbara also shares her insights in genomics education for future scientists, physicians, researchers, and counsellors. You don’t want to miss this riveting episode!

In this episode, guests Christine Ward, VP and Head of Oncology and Cell Therapy Precision & Translational Medicine at Takeda and Geoff Oxnard, Thoracic Oncologist and VP of Foundation Medicine talk to Patrick about Next Generation Sequencing (NGS) in precision oncology. Also covered are the impact of large-scale genetic datasets on patient diagnosis, data consortiums enabling pioneering discoveries, and the recent partnership between Takeda and Foundation Medicine.

Kat Arney returns to the podcast to discuss her new book ‘Rebel Cell’, which takes an evolutionary look at cancer. Kat talks about the book beginning as an idea while working on her PhD at Cancer Research UK to spending the last few years researching, conducting interviews and undertaking the book writing process. Patrick and Kat also discuss the narrative of a ‘war on cancer’ and the messaging of ‘beating cancer’ rather than managing it. You can find more information about 'Rebel Cell' and buy it here: https://www.rebelcellbook.com/

This week on The Genetics Podcast Patrick is joined by David Ochoa, Platform Coordinator at Open Targets. They discuss how the Open Targets platform is enabling game-changing collaboration between academic research and big pharma. Working with partners including Sanofi, GlaxoSmithKline, Bristol Myers Squibb, Genentech and Pfizer, Open Targets powers collaboration between some of the world’s biggest drug development pioneers and most renowned academic institutions with the goal of accelerating production of effective drug treatments.

In episode 134, we welcome fellow genetics podcaster Kira Dineen. Kira is most widely known for her award winning podcast, DNA Today, as well as producing a number of other health and science podcasts. Now running for more than 10 years, DNA Today is the winner of the 2020, 2021, and 2022 Best Science and Medicine Podcast Awards. When not podcasting, Kira works as a Prenatal Genetic Counsellor at Maternal Foetal Care in Connecticut where she supports patients with high-risk pregnancies, and is a certified Cytogenetic Technologist. Tune in for a very interesting episode!

Join us as we welcome back Dr. Veera Rajagopal, a discovery scientist at Regeneron with an interest in human genetics and drug target discovery in neuroscience and psychiatry. If you’re a regular listener of The Genetics Podcast, you are likely familiar with Dr. Veera’s annual round-up episodes. This year, we are excited to announce quarterly episodes with Dr. Veera, where he and Patrick walk you through the latest developments in genetics, drug discovery, and precision medicine throughout the year. This quarter’s episode will dive into the discovery of a recurrent de novo mutation in a noncoding region linked to neurodevelopmental disorders, the role of RAB32 in Parkinson's disease (PD), insights into monogenic conditions like systemic lupus erythematosus, and new perspectives on Alzheimer's genetics. Tune in now, and don’t forget to check out Veera’s substack, GWAS Stories, and his Twitter, @doctorveera.

Patrick interviews Dr Matt Might, whose personal and professional life has brought him all the way to advising Obama and setting up his own institute. In this exciting episode, Matt discusses how he went from a computer scientist to becoming significantly involved in rare disease research, despite a lack of academic background in biology.

In this special episode we’re sharing Patrick’s guest appearance on GIANT’s Healthy Innovators Podcast. He talks to the podcast’s host, Barry Shrier, about the need to accelerate the development of new treatment options, how personalised medicine is changing the future of healthcare and what it takes to create a successful startup in the genomic medicine landscape.

Tapoka Mkandawire is a PhD student in parasitology & genomics at the Wellcome Sanger Institute. She studies neglected tropical diseases, which affect hundreds of millions of people worldwide but aren't that well known in the UK. Tapoka talks about what’s causing the reducing rates of these diseases, and what role the gut microbiome plays in parasite life-cycle. From researchers who self-infect themselves with whipworms, to citizen science projects, and the crucial role the gut microbiome plays in everyone’s life.

Doctors have been transplanting organs for decades, but can we transplant reprogrammed stem cells to rejuvenate the human body? This week Patrick discusses transcriptional reprogramming, and bit.bio's opti-ox technology that has the potential to create every cell type and help kickstart a cell therapy revolution. With Mark Kotter Ph.D., neurosurgeon, and CEO and Founder of bit.bio.

Continuing with our mini series of Precision Pioneers, Patrick is joined by Phil Vickers, President and CEO at Faze Medicines. Phil discusses his career, including his time with companies such as Merck and Shire Pharmaceuticals. Topics discussed include: The differences between drug development in common and rare disease The unique and patient-centric approach to rare disease research at Shire How genomics has impacted drug development in the past 20 years How to balance affordability of new medicines with company profitability and continued R&D investment The role of 'platforms' in drug development, including both technology platforms and 'knowledge' platforms

Last week, the shocking story that sick migrants undergoing lifesaving care can now be deported hit the NY times - but what effect will it have on clinical trials in America? Find out in this episode of our podcast, where we discuss the top four genetic news stories from September 2019. Also featured in this episode: A 500,000 genome wide study into the genetics of homosexuality, the FDA getting stricter on pharmacogenomic tests and new epigenetic signatures in Alzheimers.

Join Patrick in welcoming Dr. Bettina Lundgren, CEO of the Danish National Genome Center. Bettina is spearheading the development of personalised medicine in Denmark with a focus on integrating genome sequencing directly into the healthcare system. She is dedicated to fostering international collaboration in research and healthcare delivery. Tune in to learn about the one of the leading national scale genomics initiatives, and Bettina’s r insights on the future of personalised medicine! 0:00 Intro 0:56 Bettina’s path to genomics 1:47 Aspirations of the Danish National Genome Center 4:18 Comparing the Danish National Genome Center to other global genomics programs 8:10 Goal to sequence 60,000 whole genomes by 2024 11:40 The biggest challenges of integrating genomics with healthcare 15:30 Navigating the politics of privacy and data sharing 20:02 Complexities of sharing data across diverse regions and healthcare systems 23:28 Partnerships across borders: Sweden, Europe, and the world 28:10 Looking forward 10 years: strategies and novel developments in personalised healthcare 31:25 Final Thoughts 32:37 Outro

In this episode, we welcome Dr. Almut Heinken, Junior Professor at the INSERM Institute of Nutrition, Genetics, Environment, and Risk Exposure at Université de Lorraine. Her work focuses on multiscale metabolic modelling of host-microbiome interactions and their role in human health. She has contributed to the development of genome-scale reconstructions of human microbes, known as the AGORA resource. Almut has also developed tools to build personalised microbiome models and applied these models to inflammatory bowel disease, Parkinson’s Disease, and colorectal cancer. She is currently working on modelling the interactions between diet, the microbiome, and the epigenome. Tune in to this exciting discussion!

This week we’re joined by Holly Peay, Senior Research Scientist in Bioethics and Genetic Counseling at the Research Triangle Institute (RTI), and Director of the pioneering Early Check Study. Holly and Patrick discuss the Early Check programme, which is offering whole genome screening to newborns and has successfully screened 1,100 babies to date. They talk about the ethical challenges raised by comprehensive newborn screening, the intersection of bioethics, genetics, and genomics, and how to approach healthcare decisions against a backdrop of complex phenotypes and multiple risk factors.

Welcome to this episode of The Genetics Podcast as we host Dr. Michael Benatar, a preeminent figure in the fight against Amyotrophic Lateral Sclerosis (ALS). Michael is a Professor of Neurology, the Chief of the Neuromuscular Division, and the Executive Director of the ALS Center at the University of Miami's Miller School of Medicine. Tune in as he and Patrick discuss research and treatment for presymptomatic gene carriers and other people at risk for ALS, as well as the future of ALS research.

This week, we welcome Michelle Werner, CEO of Alltrna and CEO/Partner at Flagship Pioneering. Michelle and her team are working at the cutting-edge of tRNA therapies, which they hope will present a scalable treatment method for people in the rare and ultra-rare disease communities. Join Patrick and Michelle for an exciting conversation about this breakthrough technology, from the transferable potential of this new modality across stop codon diseases, to Michelle’s personal passion for delivering workable solutions to the rare disease community.

In this episode of the Genetics Podcast we’re joined by Daniel Barvin, an ALS advocate whose family is affected by Familial ALS. Daniel has a genetic variant in the gene called C9orf72 that predisposes him to develop this neurodegenerative disease, and he talks about his experience getting genetic testing and decision with his wife to undergo IVF and pre-implantation genetic diagnosis to ensure that their child did not inherit the genetic variant. Daniel joins Patrick to discuss the lack of availability of genetic testing in ALS, how to make genetic testing more accessible, breaking down stigmas in hereditary disease, and his work with the non-profit 'I AM ALS’. Patrick also mentions the upcoming Festival Genomics with over 100 great speakers. You can find out more here: https://www.festivalofgenomics.com/

Food is medicine. And leveraging its power to heal isn’t a new concept. In fact, roughly 50% of all small-molecule medicines are derived from nature. But what if we could use AI to better understand the biology of the millions of molecules humans already consume? What if we could then apply this information to identify new treatments for chronic diseases? This week, we’re welcoming the CEO of Montai Health, Margo Georgiadis, to the podcast to discuss their AI platform that uses literature and wet lab experiments to analyse “the most privileged chemistry on Earth” to find new treatments for chronic diseases. Join Patrick and Margo for this hour-long episode, as they explore how Montai is leveraging technology to develop medicines based on the chemistry of food. From why ‘Anthromeolecules’ represent an abundant source of opportunities for drug discovery to the potential for AI to accelerate drug discovery and healthcare, this jam-packed episode celebrates the intersection of nature and technology. After listening to this hour-long episode, you will: understand Anthromolecules, and how the millions of molecules we already consume could be developed into new medicines know how AI can be leveraged to build a ‘ChatGPT’ to learn the language of biology and chemistry recognise Margo’s journey into biotech and healthcare, from her roots in the tech industry

Dr Patrick Short answers the top genetic questions on quora. Which include:  1) How reliable is the DNA testing offered by sites like Ancestry.com or 23andMe? 2) Does DNA testing for diet and fitness really work? 3) Does 23andMe provide accurate results for people of Indian heritage? 4) How much of the genome does 23andMe sequence? Can their data be used to study disease? 5) How seriously would you take the DNA ancestry and health reports from a place like 23andMe?

As more and more people get their DNA sequenced, through health care initiatives, biobanks and direct-to-consumer testing, an array of ethical questions arise. From how results are shared with research participants, to the ambiguities surrounding gene editing, Patrick and this week’s guest, Dr Anna Lewis, Research Associate at the Edmond J. Safra Center for Ethics at Harvard, dive deep into the big questions surrounding genetics and medicine.

Patrick talks to Dr Mahsa Shabani, a researcher at the Centre for Biomedical Ethics and Law, University of Leuven. From the golden state killer to blockchain, they discuss the latest ethical issues in genetics. They look at data sharing and involvement of patients in genomics research, and talk about Dr Shabani’s most recent paper, which looks at the ethical concerns with motivations for those who want to make their data available for research. Asking if people are choosing to share their data for financial reasons, is this ethical?

Welcome to Episode 135 of The Genetics Podcast, where we welcome Dr. Ingrid Holm, an Associate in Medicine at Boston Children’s Hospital and a Professor of Pediatrics at Harvard Medical School. Ingrid is passionate about integrating newborn screening programs to healthcare systems. She was the co-investigator on the original BabySeq study and is now co-leading a new study — BabySeq2: Bringing equity to genomic sequencing in newborns. She also leads pioneering work in a range of other paediatric projects, all of which we discuss in this episode!

This week Patrick is joined by Baroness Nicola Blackwood, the first female MP for Oxford. She was elected by MPs of all parties to Chair the Commons Science and Technology Select Committee. Baroness Blackwood remains the youngest-ever select committee chair in British history and the only woman to have held that position. Nicola is chair of Genomics England and has been a champion for genomics and the life sciences in UK policy. This episode covers the past, present, and future of genomics in healthcare in the UK and some of the exciting initiatives on the horizon, including whole genome sequencing in newborn screening.

Chief Executive Officer of Health Data Research UK Caroline Cake joins Patrick to talk about accelerating medical research through health data science. The two discuss the potential for research and innovation as well as the complexities of issues like patient privacy. Caroline gives Patrick some insight into the history and goals of HDR UK, one of the world’s top institutions for health data science.

Professor Sir Rory Collins, Founder and Chief Executive of the UK Biobank, talks to us this week about the origins of this world-changing project that has catalysed a wave of new discoveries in large part by levelling playing field in data access. In this inspiring conversation Professor Sir Rory Collins describes the 'if you build it, they will come' attitude of the UKBiobank, and how he believes the biggest impact from the UKBiobank is still to come. The conversation finishes with details on their COVID-19 work, which has involved not just members from the original 500,000 strong UKBiobank cohort, but also family members of these participants.

This week’s guest, Daniel MacArthur, is the Director of the Centre for Population Genomics at the Garvan Institute of Medical Research and Murdoch Children's Research Institute. Daniel and Patrick discuss the impact of large-scale genetic datasets on patient diagnosis and treating genetic subtypes of disease, the power of big data and consortiums to enable pioneering discoveries, and give advice for early career researchers thinking about the dichotomy between industry and academia.

In this episode we welcome Dr. Wendy Chung, Chair of the Department of Pediatrics at Boston Children’s Hospital and Professor at Harvard Medical School. Dr Chung has dedicated much of her career to uncovering the role of genetics in both rare and common diseases, and translating these findings into healthcare. Beyond her incredible science, Wendy has helped shape policy frameworks that govern the world of genetic medicine, and is now leading the pioneering GUARDIAN Study which has provided whole genome screening to >8,000 babies. Join us as we delve into the insights and experiences of a true pioneer in the field of genetics and medicine.

This episode was originally recorded for CUTalks, the podcast of the Cambridge University Technology & Enterprise club. In this podcast, CEO and Co-founder Dr Patrick Short discusses the personalised genomics industry, as well as his journey from PhD to founder and some important lessons he learnt along the way.

Dr Giles Yeo is a geneticist at the University of Cambridge, a public speaker, TV presenter and the brilliant author behind Gene Eating. We sit down to speak with Giles about how our genetics influence our diet and our behaviour towards food. 

On this episode of the podcast, Patrick is joined by Josh Friedman, Senior Director of Research at Alnylam Pharmaceuticals. Alnylam works on the discovery and development of RNA interference therapeutics; treatments for genetic diseases which work by ‘switching off’ the specific genes associated with a given condition. In this fifth episode of our precision pioneers miniseries, we explore how RNA interference can be applied to treat common and rare genetic diseases, and dive deep into the genetics of non-alcoholic fatty liver disease and NASH.