In this episode, we are excited to welcome George Church, Professor at Harvard Medical School and MIT, and Co-founder of Eugit Therapeutics, Colossal Biosciences, Arrived AI, and eGenesis. He is also the Director of PersonalGenomes.org, the world's only open-access information hub for human genomic, environmental, and trait data, as well as an IARPA BRAIN Project and the NIH Center for Excellence in Genomic Science. If that weren’t enough, George was named one of the 100 most influential people in the world in Time Magazine’s 2017 Time 100 list. In 2022, he was featured among the most influential people in biopharma by FiercePharma, where he was listed among the top 8 most famous geneticists in human history. All to say, you won’t want to miss this episode with a genetics superstar!

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!

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 focus on non-coding variants and the future of genome-wide association studies (GWAS). Tune in now, and don’t forget to check out Veera’s substack, GWAS Stories, and his Twitter, @doctorveera.

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!

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.

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 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.

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.

On Rare Disease Day, we’re joined by John Matthews, Chief Medical Officer at ReCode Therapeutics. John and Patrick discuss how ReCode is using lipid nanoparticle technologies to revolutionise delivery of novel mRNA and gene correction therapies to Primary Ciliary Dyskinesia (PCD) and cystic fibrosis patients. Listen in to find out how ReCode and Sano are collaborating to offer eligible patients free genetic testing to better understand the mechanisms behind DNAI1-related PCD, and much more. See here: https://thinkpcd.com/

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.

This week, we deep-dive into the world of genome engineering and yeast organisms with Leslie Mitchell. She’s the Co-founder and CEO of Neochromosome, a synthetic biology company specialising in whole chromosome delivery and highly automated synthesis of complex DNA. Leslie, one of the minds behind the trailblazing Synthetic Yeast Genome Project, discusses the technology behind synthetic chromosome engineering, describes its potential applications, and addresses the challenges of scalability. Listen in as Patrick and Leslie discuss the processes behind chromosome engineering and the impact it could have on the world of gene therapies.

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.

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 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 Patrick as he welcomes Dr. Matt Nelson, an influential voice in the field of genetics and drug development. Matt is currently the Vice President of Genetics and Genomics at Deerfield Discovery, as well as the CEO of Genscience. Prior to his current roles, Matt spent 15 years at GlaskoSmithKline (GSK) as a Principal Scientific Investigator and the Head of Genetics. Tune in for an interesting discussion on how genetic data has shaped drug discovery and development over the past decade, and what is needed for the next great leap forward.

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.

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.

In the second instalment of our annual round-up episode, we welcome back Dr. Veera Rajagopal to cover the biggest stories in genetics and precision medicine of the last 12 months.

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!

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

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 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.

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!

This week, we’re re-sharing one of our favorite episodes from the early days of The Genetics Podcast - one that many newer listeners may not have heard! Tune in as Professor Sir Rory Collins, Founder and Chief Executive of the UK Biobank, talks to us about the origins and evolution of this world-changing project that has catalysed a wave of new discoveries by levelling the playing field in data access. In this inspiring conversation, Professor Sir Rory Collins describes the ‘’If you build it, they will come get it” attitude of the UK Biobank. He believes that the pioneering and collaborative nature of UK Biobank means that the biggest impacts are yet to come. The conversation finishes with details on their COVID-19 work (as of 2020), which involved members from the original 500,000 strong UK Biobank cohort, as well as family members of these participants.

In this episode of The Genetics Podcast, we're joined by Dimitar Tonev, an experienced drug development consultant specialising in Hepatology and Virology. Tune in to discuss the recent reclassification of Non-alcoholic Steatohepatitis (NASH) to Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD), and the complexities of identifying treatments for this condition. Dimitar sheds light on the pioneering role of non-invasive biomarkers and comments on the potential impacts of the Maestro study. Join us as we dive into the world of liver disease and drug development, touching upon the breakthroughs, challenges, and ethical considerations of clinical trials. For anyone interested in liver health innovations and the future of hepatology research, this episode is a must-listen.

In this episode of The Genetics Podcast, we welcome Dr. Konstantinos Lazaridis, the Executive Director of the Center for Individualized Medicine at the Mayo Clinic. Tune in to learn about the impacts of genomics and individualised medicine on rare liver diseases and advanced cancers . Discover how the Mayo Clinic actively uses genomic testing, precision medicine, and environmental interventions to improve patient outcomes.

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.

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

Join Patrick Short and Professor Clare Turnbull, Professor in Translational Cancer Genetics at the Institute of Cancer Research, as they discuss polygenic risk scores and their application in healthcare. Delve into the complexities of predicting disease, the challenges of screening programs, and the potential impact of integrating genomics into healthcare systems. Discover the limitations and potential of polygenic risk scores and gain valuable insights into the future of personalized medicine. 0:00 Intro 1:00 Clare’s path to becoming a clinical geneticist and her research in uncovering genetic links to cancer 3:20 How do Polygenic Risk Scores help to predict disease, particularly breast cancer? 10:00 The influence of environmental and genetic effects on breast cancer presentation 11:30 Next clinical steps after determining genetic risk for breast cancer 17:30 How effective and accurate are polygenic risk scores in predicting various types of cancer, given the potential for false positives or negatives? 25:00 The potential for integrating genetic screenings and polygenic risk scores into early cancer diagnosis 27:20 How do monogenic risk scores like BRCA 1 and 2 fit into the paradigm of cancer research? 31:30 Using both monogenic and polygenic to explain population prevalence of disease 35:00 Integration of genomics and genetic screenings into the UK healthcare system 40:30 What comes after the genetic test? What is the use in identifying risk for a disease if nothing is subsequently done to prevent it? 44:50 Clare’s upcoming work in remodeling NHS systems for evidence protocols and clinical use of genetic tests 46:50 Closing remarks

In this episode, Patrick is joined by Dr. Mike Severino, CEO of Tessera Therapeutics and CEO-Partner of Flagship Pioneering. Join us as Mike walks us through Tessera’s approach to treating genetic diseases by rewriting bases, exons, or even whole genes with a novel approach called Gene Writing. 0:00 Intro 1:00 What prompted you to join Flagship Pioneering? 3:32 How is Flagship able to innovate and invent novel therapies in ways that Big Pharma companies may find difficult? 5:00 Introduction to gene writing and the role of Tessera Therapeutics 8:22 The current limitations and challenges of gene writing 10:22 Gene knockouts vs gene writing – which is more useful for genetic therapies? 12:30 Reasons why the liver the most commonly targeted organ for gene therapies 19:00 Lipid Nanoparticles and their role in gene writing 22:45 How do you guide mobile genetic elements to write genes in the intended location? 25:20 Development of gene writing technology since 2018 28:15 The implications of gene writing for diseases like PKU, Alpha-1 antitrypsin deficiency, sickle cell disease, and cancer 34:00 Next steps on the way to clinical trials 36:46 Using genomics and computational biology to guide measurable outcomes in drug discovery and development 40:15 Using gene writing to address rare developmental diseases 43:32 Closing remarks

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

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 milestone episode, we welcome Dr Matthew Hurles, geneticist and pioneer in the field of human genomics. Dr Hurles has dedicated his career to unravelling the secrets hidden within our DNA, as well as harnessing cutting-edge research to revolutionise our understanding of genetic disorders, human evolution, and the potential for personalised healthcare. Join Patrick and Matt as they delve into the frontiers of genomic science, from the implications of newborn screenings to emerging technologies and the transforming role of researchers. 0:00 Intro 1:55 Genetics in the ’90s compared to genetics today 4:30 Work-life balance in science 8:00 Deciphering Developmental Disorders (DDD) study 13:10 New technologies in genome sequencing 14:45 How far are we from using next-generation sequencing as standard for diagnosing rare disease? 17:10 The Industrialization of genomics research 21:10 Will we move to a world where everyone is sequenced at birth? 25:20 Uses for cellular assays in healthcare and research 27:15 Bridging the gap between rare and common diseases 31:35 Birth cohorts and newborn screening studies 33:30 The power of early diagnosis and intervention with genomics 36:30 Open access databases 38:40 Advice for early-career researchers 41:20 Future directions for the Wellcome Sanger Institute 43:30 Applications of artificial intelligence and machine learning in genomics 45:30 Thank you 46:50 Outro

Join us for EP99 of The Genetics Podcast as Patrick dives into the extraordinary career and work of Dr. Harold E Varmus, a Nobel laureate scientist, former director of the National Institutes of Health, president of Memorial Sloan Kettering Cancer Centre, and director of the National Cancer Institute. Join Patrick and Harold as they navigate the complex landscape of cancer, from advancements that have revolutionized the field to diversity in cancer research and the Polyethnic-1000 Genome Project. This compelling episode is punctuated by Harold’s personal reflections, and invaluable learnings from his career. 1:27 Why a Beowulf quote made its way into Harold’s Nobel Prize acceptance speech 2:28 How it feels to hear you have won a Nobel Prize 4:04 How did fulfilling a national responsibility during the Vietnam War lead to a Nobel Prize 7:54 Areas of cancer research that are moving forward, and areas that are more stubborn 9:44 The formidable hurdle of metastasis 11:00 The educational power of COVID 12:33 Cancer and evolution: why is cancer so difficult? 14:50 Introducing the Polyethnic-1000 Genome Project 19:35 Working with WHO to ensure genomic technologies are accessible to all 23:03 What are the biggest blockers to the widespread adoption of genomics? 26:00 Context switching: From ‘deep’ science to stepping into the role of director 28:50 Learnings on how science is funded and coordinated 33:05 Discussing the allocation of funding: small grants Vs. large, coordinated efforts 36:16 Co-founding PLoS and PubMed Central 39:49 Accelerating the shift towards more open science 44:44 Just how close are we to curing cancer? 48:00 Studying cancer rates in mammalian species

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, 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

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

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.

“We’re pioneering the ability to detect genetic disease earlier, and actually intervene in a way that is going to help those patients.” In this jam-packed 45-minute episode, we’re joined by Dr Paul Nioi, Vice President of Discovery and Translational Research at Alnylam Pharmaceuticals and Chair of the Founders Board for Our Future Health. Join Patrick and Paul as they expose the two major reasons that 90% of clinical drug development fails, and why many believe that embedding genetics into target discovery and validation can increase the success rate of trials by 2-5 times. They also deep-dive into: the evolution of population genomics: from Iceland's DECODE to the UK Biobank examples of the value of recontact-by-genotype studies in supporting safety studies for novel targets, evidenced by the recontact of an ultra-rare homozygous loss-of-function carrier of the gene HAO1 the next chapter in population genomics that’s pioneering the ability to detect genetic diseases earlier the challenges of recontacting participants in biobanks and avoiding overwhelming the healthcare system, whilst responsibly handling patients’ sensitive data Alnylam’s work to develop therapeutics for genetic diseases based on RNAi, the discovery that was awarded the Nobel Prize in Medicine or Physiology in 2006 Tune in to benefit from Paul’s invaluable insights and expertise, which are coloured with practical examples from his career throughout. After listening to this 45 minute episode, you will: recognise the role of genetics in supporting the safety and efficacy of novel targets in clinical development understand the evolution of population genomics and what’s next understand how RNAi works, and how it differs from gene editing and other forms of next-generation therapies

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.

From changing drug pricing legislation to AI breakthroughs, in the first episode of The Genetics Podcast for 2023, Patrick makes four predictions for the biggest stories of 2023. We will check in at the end of the year to see how he did! For those interested in doing further reading, any resources mentioned during the podcast are linked below. https://www.wsj.com/articles/the-inflation-reduction-act-killing-potential-cures-pharmaceutical-companies-treatment-patients-drugs-prescriptions-ira-manufacturers-1166750829

If there’s one genetics podcast episode to listen to this year, it’s this one. In the final episode of The Genetics Podcast for 2022, we’re joined by Dr Veera Rajagopal, who is known as the ‘GWAS storyteller’ on Twitter for his prolific threads breaking down the latest findings in genetics. Join Patrick and Veera as they review the most exciting stories in genetics this year, from the impact the bubonic plague has had on human evolution and our modern day lives, to looking forward and celebrating more diverse, representative populations in genetics research. For those interested in doing further reading, Veera has kindly provided links to all the papers he references during this podcast episode, and we encourage you to follow him on Twitter @doctorveera and substack (https://gwasstories.substack.com/) for regular posts on the latest in genetics and genomics. Links to the papers discussed in the episode: Mind blowing genetics Natural selection in humans at speed never seen before – black death story (https://www.nature.com/articles/s41586-022-05349-x) Hypermutated human genomes - first glimpse into the genetic and environmental factors that accelerate germline mutation rates (https://www.nature.com/articles/s41586-022-04712-2) A new monogenic cause for obesity--a structural variant that causes a skin specific gene to express in every cell of the body (https://www.nature.com/articles/s42255-022-00703-9) Milestone achievements Remarkable moment in the human genetics—saturated GWAS of height in 5.4 million individuals (https://www.nature.com/articles/s41586-022-05275-y) Looking beyond “exomes” – first population scale WGS study in the UK Biobank—what to expect as move from exomes to genomes? (https://www.nature.com/articles/s41586-022-04965-x) Proteomics at scale—another successful industry-UKB Biobank collaboration to establish world’s largest proteomics resource (https://www.biorxiv.org/content/10.1101/2022.06.17.496443v1) A step in the right direction 150,000 exomes from Mexico - first large scale exome database for a non-European population (https://www.biorxiv.org/content/10.1101/2022.06.26.495014v1) First glimpse into the genetics of age of onset T2D in Indian population (https://www.biorxiv.org/content/10.1101/2022.09.14.508063v1) Shedding more lights on the PRS barriers to non-European ancestry (https://www.nature.com/articles/s41591-022-01835-x)

"If someone tells you it’s not possible, then it’s interesting" according to Treeway Chief Development Officer Ronald van der Geest. Founded in 2012 by two ALS patients who refuse to take their diagnoses lying down, Treeway develops novel treatments for ALS, Alzheimer's disease, and other neurodegenerative diseases. Join Patrick and Ronald in our latest podcast episode as they explore Treeway’s roots, the four major disciplines required for successful development of novel treatments, discuss the landscape of ALS treatment options in 2022, and celebrate the power of a small group of people, smart design and resilience.

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.

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.

This episode, our Partnerships Lead, Lindsey Wahlstrom-Edwards dove into the importance of representation in genetic research, covering the techniques used by leading organisations to make research more accessible and representative. Lindsey is joined by Listen to speakers Natasha Ratcliffe of COUCH Health, Del Smith of Acclinate and Ebony Scott of Lupus Research Alliance to learn how to make sure your precision medicine study is inclusive by design.

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.

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.

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.

About this Episode: This week’s guest, Daphne Koller, is the Founder and CEO of Insitro - a company shifting the paradigm of new drug discovery using predictive models. Patrick and Daphne talk about why she founded Insitro, how to create unified datasets, and the importance of being realistic about drug discovery.

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.

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.

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.

In this week’s episode Patrick is joined by Michael Spigler, Vice President of Patient Support and Education at American Kidney Fund. They discuss how making genetic testing mainstream could significantly improve patient outcomes, why black Americans are four times more likely to experience chronic kidney failure, and what can be done to reduce the number of patients needing dialysis.

This week Patrick is joined by Sir Peter Donnelly, CEO of Genomics PLC and Professor of Statistical Science at the University of Oxford. They discuss how to get from data to implementation in the clinic, the challenges of polygenic risk scores including prediction across different ethnic backgrounds, and the role of genomics in drug discovery.

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 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.

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.

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 week’s episode Patrick speaks to Quin Wills and Jack O’ Meara, Co-Founders of Ochre Bio, about their founding story, why in-silico discoveries could be the road to faster and lower cost liver therapeutics, and the need for prioritising preventative measures against disease as the average human lifetime gets longer.

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.

This week’s guest, Paulo Fontes, is a Professor of Surgery and Chief Medical Officer at LyGenesis, an organ regeneration technology platform with a current focus on liver regeneration for patients with end stage liver disease. He talks to Patrick about how our lymph nodes can act as a 'bioreactor' to regrow functioning organs, how liver cells could be used in multiple transplants, and shares his thoughts on the future of organ transplants.

In this week’s episode Patrick speaks to Director of the Big Data Institute at University of Oxford, Professor Cecilia Lindgren, about her biggest eureka moment, the power of collaboration and consortiums across academia and industry to grow genetic sample sizes and accelerate research, and the importance of best practice standards to enable genetic research to scale successfully.

What is the role of genetics in Parkinson’s disease? From the impact of variants in the LRRK2 gene, to the need to expand PD research in diverse populations to aid the development of new medicines, this week’s guests, Dr Ignacio Mata and Dr James Beck, talk to Patrick about the history, and future, of precision medicine development in Parkinson’s disease.

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.

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.

For many Long COVID patients the debilitating long-term symptoms they experience emerged after what, at first, appeared to be a mild COVID-19 infection. Professor David Strain, Senior Clinical Lecturer at University of Exeter Medical School and Honorary Consultant in Medicine, speaks to Patrick about the patterns he saw emerge while working on the frontline of the pandemic. From the first time David attended a meeting about COVID-19, at a 3am webinar broadcast from China, to working with Sano to help identify the genetic markers of Long COVID, they discuss the still emerging impact of the condition, from the first use of the term 'Long COVID' in May 2020, up until today.

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.

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.

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.

What have gene editing and gene therapies got to do with rockets and satellites? Oscar Segurado, Chief Medical Officer at ASC Therapeutics, explains in the sixth episode of our precision pioneers miniseries. Oscar joins Patrick to discuss the future of precision medicine and how CRISPR gene editing technology can be applied to treat haemophilia.

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.

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.

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

This week Patrick talks to Nihar Bhakta as part of our series of ‘Precision Pioneers’. Dr Bhakta is the Chief Medical Officer at Aristea Therapeutics, a clinical-stage drug development company developing novel therapies to treat serious inflammatory diseases. Dr Bhakta specialises in precision medicine and in this episode they focus on his work developing precision medicines for both common and rare diseases. This is the second episode in a mini-series on ‘Precision Pioneers’ - stay tuned for more episodes in this area and find previous episodes by searching for The Genetics Podcast on any podcast provider.

This week Patrick is joined by Dr Kaja Wasik, CSO and co-founder of Variant Bio. Prior to Variant Bio, Kaja co-founded Gencove, a spin-out from the New York Genome Center and an innovator in low-pass whole genome sequencing and imputation. In this episode Patrick and Kaja discuss Variant Bio's approach to using human genetic data for novel drug development and their model for engaging deeply with communities who donate genetic samples and offer a share in the companies revenues. This is the first episode in a mini-series on 'Precision Pioneers' - stay tuned for more episodes in this area.

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.

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.

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/

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.

On this episode of the podcast Patrick is joined by returning guest Dr Jeff Barrett. Jeff is the the lead statistical geneticist for The COVID-19 Genomics UK Consortium (COG-UK). Patrick and Jeff discuss COG-UK's sequencing operation that is tracking viral spread around the UK, how to identify super spreader events from virus data, what is known about re-infection from COVID19, and results from the vaccine trials and what the next year may hold.

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.

Dr Barry Singer is a neurologist who specialises in multiple sclerosis, he is also the host of MS Living Well, a podcast that deals with living with multiple sclerosis. In 2007 Dr Singer created the website MS living well as a resource centre for patients looking to find information about the disease. In this episode, Patrick and Dr Singer talk about how advancements in technology have not only produced advancements from a scientific perspective but also in the doctor patient relationship. For example, Dr Singer reaches thousands of patients through his website, blog, and podcasts providing high-quality information to everyone, regardless of whether they live near a specialist center. Dr Singer also uses voice-to-text technology in his appointments, leaving him free to speak with his patients rather than typing on a keyboard the whole time. From the genetics of MS to trying to understand why women are affected more by auto-immune diseases, this episode draws on Dr Singer’s experience in the field.

Patrick interviews Dr Daphne Martschenko, a postdoctoral research fellow at Stanford University. Daphne’s work has focused on genomics and the American education system. She has published extensively in scholarly journals and mainstream outlets on the topic of education inequity, particularly among young people of color. Patrick and Daphne discuss the history of IQ testing, how genome-wide association analysis and polygenic risk scores are being applied to education, and the ethical issues surrounding gene editing technologies.

Seb Tucknott is an author and patient advocate who was diagnosed with Ulcerative Colitis in 2008. In 2015 he founded IBD relief, an online community of others with the condition that also provides resources. Seb joins the podcast to discuss how to view the healthcare system from an outsider's perspective, making lifestyle changes, and his 2019 book 'Tipping the Balance'.

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.

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 we talk to Steff Di Pardo, a patient advocate and writer who has Ankylosing Spondylitis - which is a chronic autoimmune disease. She talks about the long road to diagnosis, how she started opening up about her condition to friends and family on Facebook, and her decision to bring her refreshing honesty to a wider audience with her blog, Totally Chronic. Steff Di Pardo opens up about her experiences with how her chronic condition has impacted her mental health, being a part of online support networks (on platforms like Instagram) and her new book ‘Just Breathe’ which features short essays on living with a chronic condition.

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.

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.

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.

Keith McArthur is one of the parents re-writing the rules for research in rare disease. Keith is CEO of the CureGRIN foundation, a non-profit backed by the Chan-Zuckerberg Initiative. Keith and his co-founder Denise Rehner believe that patients hold the power to accelerate research and drive progress, and that a cure for GRIN Disorders is possible. Keith is also the host of the podcast Unlocking Bryson's Brain, an award-winning podcast covering the Keith and Laura McArthur's search for the key that could unlock their son Bryson’s brain. Over 8 episodes, the podcast covers, Bryson's birth and diagnosis, gene editing technology like CRISPR, creating a mouse model of Bryson's disease, and a 'pilgrimage' to Boston - the global epicentre of biotechnology and rare disease research. In this live podcast, listeners had the chance to ask Keith their own questions about rare disease life, research, and the future of patient-powered research.

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.

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

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.

This episode covers some of the dramatic changes in the field of medical research as a result of COVID19 making it unsafe for people to visit medical research facilities, and medical professional's time and efforts being redirected to fighting the new virus. The guests on the podcast are Paul Wicks, a digital health consultant and scientific advisor to Sano Genetics as well as several other digital health companies. Paul was previously the VP of Innovation at PatientsLikeMe, one of the worlds largest patient social networks and one of the first large-scale platforms for patients to share knowledge and connect with one another, and a pioneer in digital medical research. Paul was previously on the podcast on episode 22 in October 2019 "Behind every data point is a patient". The second guest is Liam Eves, who is also part of the Sano team and has worked in medical research and life sciences for about 15 years working in a number of different parts of the clinical trial ecosystem including at CROs, site management companies, and startup companies innovating in remote clinical trials. Liam is experienced in virology clinical trials, and explains how a typical trial is conducted and some of the challenges with COVID19.

Why do some people have a severe response to COVID-19, and others seem to have no symptoms at all? Is the answer in our genes? This week we talk to Chris Wigley, the CEO of Genomics England and Interim SRO for Data-NHSX, and Dr Richard Scott, the clinical lead for rare disease at Genomics England and consultant clinical geneticist at Great Ormond Street. Genomics England has led the UK into a new world of medicine with genetic sequencing, and it’s only just starting. Today, we’re focusing on the recently announced large scale human genome sequencing project launched by Genomics England in regards to COVID-19. From understanding individual response and drug development, listen to what Genomics England are hoping to understand about COVID-19. If you would like to volunteer for Genomics England's study on COVID19, sign up here: https://www.genomicsengland.co.uk/covid-19/

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/

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.

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.

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 this week’s bonus episode we talk to Dr Angela Rasmussen (@angie_rasmussen), a Virologist at Columbia University. She answers top questions surrounding COVID-19 and what this outbreak could mean for our future. Does genetics or blood type may affect the virus? How does the virus actually work and how do we test for it? Get a fuller picture of the virus, what we know so far, and how we can prevent this happening again.

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.

Early detection for diseases like cancer is important to everyone, but Owlstone Medical is leading the pack by creating a breathalyser that aims to diagnose diseases in the ultimate non-invasive test. Their ground-breaking technology is completely painless and uses breath - not blood - for early detection and diagnosis of disease. Patrick talks to Billy Boyle in this episode about his role as CEO at Owlstone Medical and the reasons behind his drive towards early diagnosis. From cancer detection to the effects of air pollution, the potential future uses for this amazing technology seems unlimited while also removing the fear of most current testing.

In this double-bill episode, Patrick talks to two key rare disease researchers in the field: Dr Bruce Bloom, the CCO of Healx, and Dr Mike Tranfaglia, CSO of FRAXA. In this episode both draw on their wide-ranging personal and professional experiences to discuss the successes and opportunities of drug repurposing, the power of using machine learning, and the work they’ve been doing.

Patrick interviews Dr Jeff Barrett from Genomics PLC about how genetic data can be used for drug discovery and the future of precision medicine. In this episode, Dr Barrett talks about going beyond genes to understand how they affect particular genetic risks and conditions. They also discuss the closeness of the genetics community and the sharing spirit when it comes to research.

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.

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?

Dr Patrick Short talks to Gemma Stunt about her son Bertie’s diagnosis of Duchenne muscular dystrophy, how to get involved in clinical trials and what life is really like with a currently ‘incurable’ genetic condition.

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.

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.

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.

In this episode Patrick Short speaks with Allison Watson the co-founder and secretary of Ring20 Research and Support UK patient organisation and the co-chair of EpiCARE’s patient advisory group. Allison discusses the Ring Chromosome 20 syndrome and the work of Ring20 Research and Support UK.

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.

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.

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.

This week on our podcast, we speak to Alastair Kent, a world leader in policy development and patient engagement for rare disease. In this episode, we discuss how research is changing in rare conditions and what part DNA sequencing and data sharing are playing in this.

This week on our podcast we speak to Kira Dineen, a genetic counsellor in training and host of DNA Today. We ask Kira what she’s learned from more than 200 hours of conversation with leading doctors and researchers in genetics, as well as some questions about genetic counselling and her experience. This is part one of a special two-part episode. The other half of the podcast will be featured on DNA Today so make sure you head over to DNA Today for the rest!

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

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.

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?

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.

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. In this episode, we discuss wireless medicine and the role of artificial intelligence and machine learning in medicine and healthcare.

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.

Sano Genetics CEO Dr Patrick Short interviews Dr Sonya Abraham, a researcher at Imperial College, London who looks at different conditions like arthritis and psoriasis to discuss biological therapies (or biologics) and how the gut microbiome affects these treatments.

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.

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.

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.

Dr Cathryn Lewis is a highly regarded Professor of Genetic Epidemiology and Statistics at King's College London. Previously in her career Dr Lewis significantly contributed to research on the breast cancer genes BRA1 and BRCA2. She now leads the Statistical Genetics Unit at Kings College London. Dr Lewis joins us for this episode to discuss her latest research and the link between genetics and depression.

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. 

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. 

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.