5. Mitochondrial genomics with Prof Patrick Chinnery

Introducing Season 2 of Genomics Unravelled - the educational podcast about the future of genomics in healthcare! In this season of the podcast we will be chatting with a bunch of experts in the field of cancer genomics. Stay tuned for the first episode!

Bonus live episode! We hosted a live episode of the podcast at Cambridge Rare Disease Network’s RAREFest22 at the end of last year with an expert panel - Amanda Pichini (Genomics England), Kate Downes (East Genomics) and Peter Fish (Mendelian). Guided by soundbites from people who have been affected by rare disease, our expert panel discuss the challenges faced at every stage of the diagnostic odyssey, and how genomics advances could help.

In this episode, we are joined by Professor David Rowitch. David is Head of the Department of Paediatrics at the University of Cambridge. He is academic lead for the new Cambridge Children’s Hospital, bringing paediatric physical and mental health together using genomic medicine to not just treat diseases but prevent them. We chat about what drew him to a career in paediatrics, the role of genome sequencing in paediatric intensive care, and his vision for the Cambridge Children’s Hospital.

In this episode, we are joined by Professor Patrick Chinnery. Patrick is a Wellcome Trust Principal Research Fellow at the MRC Mitochondrial Biology Unit at the University of Cambridge, where he is also Professor of Neurology and Head of the Department of Clinical Neurosciences. We chat about the challenges of diagnosing patients with mitochondrial diseases, the power of genomics for diagnosis, and the ins and outs of developing new treatments for rare diseases.

In this episode, we are joined by Professor Sharon Peacock. Sharon has worked on pathogen genomics, antimicrobial resistance and a range of tropical diseases in the UK and Southeast Asia for the last 25 years, most recently launching the Covid-19 Genomics UK Consortium (COG-UK) to provide SARS-CoV2 genome sequencing to Public Health Agencies. We chat about the role of COG-UK in identifying variants of concern, its impact on UK public health policies and the future of pathogen genomics.

In this episode, we are joined by Dr Gemma Chandratillake. Gemma is Chair of the British Society for Genetic Medicine. Having trained as a molecular geneticist and genetic counsellor, she now holds leading roles in genomics education, including Education and Training Lead for NHS East Genomics. We chat about her transition from bench to bedside, the role of genetic counsellors and the challenges of genomics education within the NHS and among the wider public.

In this episode, we are joined by Dr Giles Yeo. Giles is a Principal Research Associate at the MRC Metabolic Diseases Unit at the University of Cambridge, studying the brain’s control of food intake and body weight, and how these might be dysregulated in obesity. We chat about his career in genetics research, genome-wide association studies and the future role of polygenic risk scores in routine clinical care.

In this episode, we are joined by Dame Sally Davies. Dame Sally was the Chief Medical Officer for England and Senior Medical Advisor to the UK Government from 2011-2019, during which time she oversaw the 100,000 Genomes Project and the launch of the NHS Genomic Medicine Service. We chat about her time as Chief Medical Officer, the intersection of genomics and antimicrobial resistance, and the future of genomics within the NHS.

Introducing Genomics Unravelled - the educational podcast about the future of genomics in healthcare! Here’s the trailer for the first season of the podcast, in which we will be chatting with a bunch of Cambridge-based experts in the field of genomics. Stay tuned for our first episode!