The Genetics Podcast

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/

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.

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.

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.

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.

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.

Early detection for diseases like cancer is important to everyone, but Owlstone Medical is leading the pack by creating a breathalyser that aims to diagnose diseases in the ultimate non-invasive test. Their ground-breaking technology is completely painless and uses breath - not blood - for early detection and diagnosis of disease. Patrick talks to Billy Boyle in this episode about his role as CEO at Owlstone Medical and the reasons behind his drive towards early diagnosis. From cancer detection to the effects of air pollution, the potential future uses for this amazing technology seems unlimited while also removing the fear of most current testing.

In this double-bill episode, Patrick talks to two key rare disease researchers in the field: Dr Bruce Bloom, the CCO of Healx, and Dr Mike Tranfaglia, CSO of FRAXA. In this episode both draw on their wide-ranging personal and professional experiences to discuss the successes and opportunities of drug repurposing, the power of using machine learning, and the work they’ve been doing.

Patrick interviews Dr Jeff Barrett from Genomics PLC about how genetic data can be used for drug discovery and the future of precision medicine. In this episode, Dr Barrett talks about going beyond genes to understand how they affect particular genetic risks and conditions. They also discuss the closeness of the genetics community and the sharing spirit when it comes to research.

Patrick interviews Dr Matt Might, whose personal and professional life has brought him all the way to advising Obama and setting up his own institute. In this exciting episode, Matt discusses how he went from a computer scientist to becoming significantly involved in rare disease research, despite a lack of academic background in biology.