The Genetics Podcast

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.