As more and more people get their DNA sequenced, through health care initiatives, biobanks anddirect-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 weeks guest, Dr Anna Lewis, Research Associate at theEdmond J. Safra Center for Ethics at Harvard, dive deep into the big questions surrounding genetics and medicine.
Aug 18, 2021•36 hr 18 min•Transcript available on Metacast 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...
Aug 04, 2021•46 hr 1 min•Transcript available on Metacast In this special episode were sharing Patricks guest appearance on Genomics Englands 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 peoples lives.
Jun 30, 2021•42 hr 20 min•Transcript available on Metacast How can precision medicine techniques be used to develop potential new treatments for genetic Parkinsons 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 Parkinsons patients, how genetically guided treatments could help patients with the LRRK2 gene, and how new technologies such as wearable devices could help catch Parkinsons cases at an earlier sta...
Jun 23, 2021•34 hr 37 min•Transcript available on Metacast 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...
Jun 07, 2021•46 hr 8 min•Transcript available on Metacast 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.
May 19, 2021•48 hr 23 min•Transcript available on Metacast 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...
May 05, 2021•34 hr 29 min•Transcript available on Metacast 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...
Apr 21, 2021•49 hr 22 min•Transcript available on Metacast 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 med...
Apr 07, 2021•57 hr 7 min•Transcript available on Metacast 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 e...
Mar 25, 2021•56 hr 32 min•Transcript available on Metacast 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 ...
Mar 03, 2021•51 hr 8 min•Transcript available on Metacast 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.
Feb 17, 2021•53 hr 35 min•Transcript available on Metacast 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 its like being a patient advocate in this space for over 10 years, and the importance of a good neurologist.
Feb 03, 2021•35 hr 22 min•Transcript available on Metacast In this episode of the Genetics Podcast were 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 avail...
Jan 20, 2021•42 hr 31 min•Transcript available on Metacast 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 thats providing disruptive cell signalling technology. Jason Mellad, the CEO and Co-Founder of Start Codon a healthcare accel...
Jan 14, 2021•42 hr 38 min•Transcript available on Metacast 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.
Dec 09, 2020•39 hr 19 min•Transcript available on Metacast On this episode of the podcast Patrick is joined by Dr Jennifer Vena the Scientific Director of Albertas 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.
Nov 26, 2020•48 hr 11 min•Transcript available on Metacast 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 e...
Nov 11, 2020•46 hr 32 min•Transcript available on Metacast Patrick interviews Dr Daphne Martschenko, a postdoctoral research fellow at Stanford University. Daphnes 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 surrou...
Oct 29, 2020•46 hr 30 min•Transcript available on Metacast 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'.
Oct 14, 2020•51 hr 3 min•Transcript available on Metacast 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 worlds top institutions for health data science.
Sep 30, 2020•41 hr 31 min•Transcript available on Metacast 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 bu...
Sep 16, 2020•38 hr 5 min•Transcript available on Metacast 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 su...
Sep 02, 2020•23 hr 23 min•Transcript available on Metacast 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.
Aug 19, 2020•39 hr 29 min•Transcript available on Metacast 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 co...
Aug 05, 2020•43 hr 24 min•Transcript available on Metacast 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 whats 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 ...
Jul 29, 2020•34 hr 52 min•Transcript available on Metacast 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 t...
Jul 25, 2020•50 hr 28 min•Transcript available on Metacast 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 deta...
Jul 23, 2020•35 hr 59 min•Transcript available on Metacast 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...
Jul 09, 2020•42 hr 57 min•Transcript available on Metacast 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...
Jun 30, 2020•39 hr 46 min•Transcript available on Metacast 
