Back

Explore every episode of the podcast The Genetics Podcast

Dive into the complete episode list for The Genetics Podcast. Each episode is cataloged with detailed descriptions, making it easy to find and explore specific topics. Keep track of all episodes from your favorite podcast and never miss a moment of insightful content.

Rows per page:

1–50 of 240

TitlePub. DateDuration
EP 172: Racial health disparities in genetic testing and breast cancer treatment with Dr. Versha Pleasant of University of Michigan30 Jan 202500:48:48

This week on The Genetics Podcast, Patrick is joined by Versha Pleasant, Clinical Assistant Professor in the Department of Obstetrics and Gynecology, University of Michigan and Director of the Cancer Genetics and Breast Health Clinic at Von Voigtlander Women’s Hospital. They discuss ongoing disparities in healthcare, in particular why black women in the US have a 40% higher chance of dying from breast cancer than white women, the impact of the US Educate Act on equality, diversity and inclusion education, and much more.


00:00:00 – Intro to The Genetics Podcast

00:01:52 – Welcome to Versha

00:03:22 – How black women have a 40% higher chance of mortality from breast cancer than white women, and the biggest drivers of this disparity

00:07:09 – Multifaceted approaches to addressing disparities

00:09:10 – Racial health duplicity and increasing access to genetic testing and mammography for black women

00:13:51 – The challenges of using precision medicine to stratify risk in black communities and historical harms in US medical research

00:14:29 – How to design for inclusive studies that effectively represent communities of colour

00:16:13 – Considering universal genetic testing and counseling for black women

00:21:24 – The logistics of making universal testing a reality, and the importance of community education and trust building

00:27:18 – What Versha is focused on next and the big topics she wants to tackle

00:33:24 – The role of community education and diversifying modes of communication for knowledge sharing

00:34:36 – Versha’s perspectives on the US Educate Act and the impact it could have on what doctors of the future are taught

00:40:52 – Versha’s advice to people who would like to pursue a similar career in medicine

00:43:28 – Where Patrick sees genetics evolving in the next ten years and his vision for the future of The Genetics Podcast

00:47:39 – Closing remarks


Find out more

Universal Genetic Counseling and Testing for Black Women: A Risk-Stratified Approach to Addressing Breast Cancer Disparities: https://www.clinical-breast-cancer.com/article/S1526-8209(24)00338-0/fulltext 

Please consider rating and reviewing us on your chosen podcast listening platform! https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link 

EP 171: The past, present, and future of long-read sequencing with Jonathon Hill of Wasatch Biolabs23 Jan 202500:35:13
This week on The Genetics Podcast, Patrick is joined by Jonathon Hill, associate professor at Brigham Young University and co-founder and VP of Wasatch Biolabs. Jonathan and Patrick discuss the power of long-read sequencing, how Wasatch Biolabs was created, and how Jonathon has fostered valuable collaborations between academic labs and Wasatch Biolabs.
EP 162: The genetics of isolated communities with Professor Jim Wilson of the University of Edinburgh21 Nov 202400:40:33
Summary: This week, Patrick is joined by Jim Wilson, Professor of Human Genetics at the University of Edinburgh. Jim discusses the genetics of isolated populations and the Vikings Genes project, which has led him to work with communities from more than 25 Scottish islands, and how new sequencing programs can dramatically improve health outcomes for these groups. He also touches on mapping Prince William’s mitochondrial DNA, lobbying Westminster to raise awareness of genetic screening, and his Irish Film & Television Awards (IFTA) winning work with the Irish Traveller community.
EP72: The DecodeME team on the challenges facing myalgic encephalomyelitis and chronic fatigue syndrome patients and the future of personalised treatments10 Nov 202100:32:25
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.
EP 71: Chief Medical Officer at LyGenesis, Professor Paulo Fontes, on the future of organ transplants29 Oct 202100:36:34
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.
EP 70: The University of Oxford's Professor Cecilia Lindgren: understanding complex disease through big data and team science14 Oct 202100:40:05
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.
EP 69: Chief Scientific Officer at Parkinson's Foundation, Dr James Beck, and Dr Ignacio Mata, Professor at the Cleveland Clinic, on the genetics of Parkinson’s disease and the future of precision treatments24 Sep 202100:40:41
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.
EP 68: Dr Patrick Short features on GIANT’s Healthy Innovators Podcast and discusses the path to creating a successful startup in genomic medicine01 Sep 202100:36:53
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.
EP 67: Dr Anna Lewis from the Edmond J. Safra Center for Ethics at Harvard, on the biggest ethical questions in DNA sequencing and editing18 Aug 202100:36:17
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.
EP 66: Professor David Strain, Senior Clinical Lecturer at the University of Exeter Medical School, on the emergence of Long COVID, its impact and how research is vital for supporting patients04 Aug 202100:46:00
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.
EP 65: Dr Patrick Short guest features on The G Word podcast and discusses the power of translational research with CEO of Genomics England, Chris Wigley30 Jun 202100:42:19
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.
Precision Pioneers EP 8: Chief Medical Officer at ESCAPE Bio, Dr Carrolee Barlow, on developing precision medicines for genetic forms of Parkinson’s disease23 Jun 202100:33:36
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.
Precision Pioneers EP 7: Dr Vineeta Agarwala on investing in the future of precision medicine at the a16z bio fund07 Jun 202100:46:07
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.
EP 161: How large language models can help build immunotherapies with Michelle Teng of Etcembly Ltd.14 Nov 202400:50:35
In this week’s episode, Patrick is joined by Michelle Teng, ​​CEO and Co-Founder of Etcembly Ltd and Founding Executive Director and Chief Scientific Officer of SynaptixBio. Michelle explains how her team is training large language models (LLMs) to analyze immune system data and how the company’s Long Term Survivor Study is helping identify T-cell profiles associated with sustained cancer remission. She also speaks to her own experience of ultra-rare genetic disease.
Precision Pioneers EP 6: Chief Medical Officer at ASC Therapeutics, Oscar Segurado, on the break-through application of CRISPR gene editing to treat haemophilia19 May 202100:48:22
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.
Precision Pioneers EP 5: Alnylam's Josh Friedman on developing precision medicines for the 'silent killer' NASH/NAFLD05 May 202100:34:28
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.
Precision Pioneers EP 4: Geneticist and Harvard professor, Robert Green on accelerating implementation of genomic medicine21 Apr 202100:49:21
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.
Precision Pioneers EP 3: CEO of Faze Medicines, Phil Vickers on 'Running toward challenges' in precision medicine development07 Apr 202100:57:06
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
Precision Pioneers EP 2 : Aristea Therapeutics CMO Nihar Bhakta on developing precision medicines for both common and rare diseases25 Mar 202100:55:31
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.
Precision Pioneers EP 1: Variant Bio CSO Kaja Wasik on the power of human genetic diversity in drug development03 Mar 202100:51:07
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.
EP 56: The business of start ups with Jason Mellad, CEO of Start Codon17 Feb 202100:52:34
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.
EP 55: The Girl With MS talks about her journey with Multiple Sclerosis and advocacy03 Feb 202100:35:21
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.
Ep 54: Genetic testing, breaking down stigma, and supporting people with Familial ALS with Daniel Barvin20 Jan 202100:41:30
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/
EP 53: Predictions and trends to watch for the year ahead with Jane Theaker, Phillip Beer, and Jason Mellad14 Jan 202100:41:37
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.
EP 160: Artificial Intelligence, GWAS in Drug Discovery, and Career Insights with Dr. Eric Fauman, Executive Director and Head of Computational Biology in the Internal Medicine Research Unit at Pfizer07 Nov 202400:52:25
In this episode, we welcome Dr. Eric Fauman, Executive Director and Head of Computational Biology in the Internal Medicine Research Unit at Pfizer. Eric and Patrick discuss facilitating efficient identification of potential drug targets and the role of artificial intelligence in genetics research and drug discovery. Please note that Eric has kindly shared some interesting research that was mentioned in the podcast. It is pasted at the end of the show notes.
EP 52: Population-scale viral sequencing with Dr Jeff Barrett, Lead Statistical Geneticist for COG-UK09 Dec 202000:39:18
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.
EP 51: 20-year study of 55,000 Canadians: Alberta's Tomorrow Project with Dr Jennifer Vena26 Nov 202000:48:10
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.
EP 50: Dr Barry Singer, the MS doctor who is using technology to connect with patients and scale his impact11 Nov 202000:45:31
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.
EP 49: Genomics in education and the social sciences with Dr Daphne Martschenko29 Oct 202000:45:29
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.
EP 48: Tipping the Balance on Ulcerative Colitis with Seb Tucknott14 Oct 202000:51:02
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'.
EP 47: HDR-UK CEO Caroline Cake: Making the UK a world leader in health data science30 Sep 202000:40:30
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.
EP 46: Rebel Cell: Kat Arney's new book on Cancer, Evolution, and the Science of Life16 Sep 202000:38:04
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/
EP 45 Steff Di Pardo on Ankylosing Spondylitis and Instagram as a support network for health communities02 Sep 202000:23:22
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.
EP 44 Bringing preventive health to 8 billion people: Peter Würtz from Nightingale Health on their pioneering blood testing platform19 Aug 202000:39:28
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.
EP 43 Diversity in clinical research and COVID19's impact on people with immune conditions with Dr Sonya Abraham.05 Aug 202000:43:23
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.
EP 159: Engineering macrophages to tackle rare disease with Noam Baumatz of Noga Therapeutics31 Oct 202400:44:17
In this episode, we’re joined by Noam Baumatz, CEO and Co-Founder of Noga Therapeutics, a company dedicated to developing gene therapies for rare and severe diseases through engineering macrophages. Motivated by his highly personal experience of rare disease, Noam founded Noga to develop the type of gene therapies his daughter was unable to access. He and Patrick discuss his work with parents and families affected by rare disease, the road to effective, financially accessible gene therapies, and Noam’s previous work in traditional Chinese medicine.
EP 42 Tapoka Mkandawire on the gut microbiome, neglected tropical diseases, and the power of citizen science29 Jul 202000:33:51
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.
EP 41 Keith McArthur, the rare disease dad who is re-writing the rules in order to find a cure for his son - Live Podcast25 Jul 202000:50:27
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.
EP 40 Professor Sir Rory Collins on the origins and future of the UKBiobank23 Jul 202000:34:58
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.
Ep 39 How hundreds of scientists from 50 nations are collaborating on Slack to study genetics & COVID19 with Dr Andrea Ganna09 Jul 202000:41:56
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
EP 38: Big Data in genomics - why we need 'the cloud' and AI to make sense of it all with Dr Maria Chatzou Dunford30 Jun 202000:38:45
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.
EP 37: The future of medical research post COVID10 Jun 202000:44:21
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.
EP 36: Genomics England CEO Chris Wigley & Clinical Lead Richard Scott: sequencing 35,000 people with COVID19, the future of genomic medicine, and why patients are their 'north star'27 May 202000:25:18
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/
EP 35: 8 weeks in - what it’s like to have COVID-19 with Adelina Chalmers13 May 202000:39:56
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/
EP 34: 1 in 70 million - conversation with rare disease advocate David Rose29 Apr 202000:28:28
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.
EP 33: Kat Arney on cancer research, epigenetics, and helping launch the ZOE app in the COVID19 crisis15 Apr 202000:48:18
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.
EP 158: Research Roundup with Dr Veera: Discoveries in neurogenetics, evolution, cardiac arrhythmias, and more!23 Oct 202401:11:31
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 may be familiar with Dr. Veera’s annual round-up episodes, and more recently, his quarterly appearances on the show. We’re pleased to bring you the latest quarterly roundup, during which Dr. Veera and Patrick walk through the most recent developments in genetics, drug discovery, and precision medicine. In this episode, Dr. Veera and Patrick dive into a wide variety of topics, including: - The evolution of skin color in humans - The potential of a novel tau isoform for Alzheimer’s treatment - Protective mechanisms of tomoregulin-1 against herpes simplex virus - The discovery of a new noncoding Mendelian disease mechanism linked to cardiac arrhythmias - A comparative analysis of whole genome versus whole exome sequencing for gene discovery. Tune in now, and don’t forget to check out Veera’s substack, GWAS Stories, and his Twitter, @doctorveera. Additionally, we’re excited to invite you to an in-person meetup for The Genetics Podcast during the ASHG Annual Meeting in Denver, CO! Over the years, we’ve had the honor of speaking with leading voices across science, industry, patient advocacy, and policy. Now, we’re bringing this incredible community together face-to-face. Join us on the evening of Thursday, November 7. To RSVP, visit: https://lu.ma/geneticspodASHG.
EP 32: DNA sequencing to find our roots and solve cold cases, the ethics of DNA databases with Debbie Kennett01 Apr 202000:44:55
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.
EP 31: COVID-19 - the human response to the virus, and what the future may hold with Columbia University Virologist Dr Angela Rasmussen20 Mar 202000:46:44
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.
EP 30: Patient powered research networks - the future of medical research with Jillian Hastings Ward17 Mar 202000:40:40
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.
© My Podcast Data