The Genetics Podcast

“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.