DiscoverThe Genetics Podcast
The Genetics Podcast
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The Genetics Podcast

Author: Sano Genetics

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Exploring all things genetics. Cambridge University Alumnus and current CEO of Sano Genetics Dr Patrick Short analyses the science, interviews the experts and helps share the stories of people who have been personally affected by genetic conditions. To take part in the latest research studies mentioned in this podcast please visit sanogenetics.com/research
51 Episodes
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On this episode of the podcast Patrick is joined by Dr Jennifer Vena the Scientific Director of Alberta’s 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.
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 example, Dr Singer reaches thousands of patients through his website, blog, and podcasts providing high-quality information to everyone, regardless of whether they live near a specialist center. Dr Singer also uses voice-to-text technology in his appointments, leaving him free to speak with his patients rather than typing on a keyboard the whole time. From the genetics of MS to trying to understand why women are affected more by auto-immune diseases, this episode draws on Dr Singer’s experience in the field.
Patrick interviews Dr Daphne Martschenko, a postdoctoral research fellow at Stanford University. Daphne’s 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 surrounding gene editing technologies.
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'.
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 world’s top institutions for health data science.
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 buy it here: https://www.rebelcellbook.com/
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 support networks (on platforms like Instagram) and her new book ‘Just Breathe’ which features short essays on living with a chronic condition.
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.
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 conditions, like Ankylosing Spondylitis, Lupus, Rheumatoid Arthritis, and others are at greater risk from COVID19, and uncertainties around the impact of common drugs on COVID19 severity. Finally, we discuss why drugs that were originally used in rheumatology are now providing effective for COVID19 treatment.
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 what’s 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 plays in everyone’s life.
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 the key that could unlock their son Bryson’s brain. Over 8 episodes, the podcast covers, Bryson's birth and diagnosis, gene editing technology like CRISPR, creating a mouse model of Bryson's disease, and a 'pilgrimage' to Boston - the global epicentre of biotechnology and rare disease research. In this live podcast, listeners had the chance to ask Keith their own questions about rare disease life, research, and the future of patient-powered research.
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 details on their COVID-19 work, which has involved not just members from the original 500,000 strong UKBiobank cohort, but also family members of these participants.
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're taking registrations now! Find out more here: https://zoom.us/webinar/register/WN_sC0VSsigQhecZ75loF5HSw
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. On this episode, we talk to Dr Maria Chatzou Dunford, CEO and Co-Founder of LifeBit, a company that wants to democratise analysis of genetic big data. Lifebit's platform allows researchers to analyse existing genetic data without having to copy from its original location, using 'federated data analysis' and the cloud. Lifebit's long-term aim is to not just make accessing and analysing data easier for researchers, but to develop Artificial Intelligence and Machine Learning tools to help researchers make sense of it.
This episode covers some of the dramatic changes in the field of medical research as a result of COVID19 making it unsafe for people to visit medical research facilities, and medical professional's time and efforts being redirected to fighting the new virus. The guests on the podcast are Paul Wicks, a digital health consultant and scientific advisor to Sano Genetics as well as several other digital health companies. Paul was previously the VP of Innovation at PatientsLikeMe, one of the worlds largest patient social networks and one of the first large-scale platforms for patients to share knowledge and connect with one another, and a pioneer in digital medical research. Paul was previously on the podcast on episode 22 in October 2019 "Behind every data point is a patient". The second guest is Liam Eves, who is also part of the Sano team and has worked in medical research and life sciences for about 15 years working in a number of different parts of the clinical trial ecosystem including at CROs, site management companies, and startup companies innovating in remote clinical trials. Liam is experienced in virology clinical trials, and explains how a typical trial is conducted and some of the challenges with COVID19.
Why do some people have a severe response to COVID-19, and others seem to have no symptoms at all? Is the answer in our genes? This week we talk to Chris Wigley, the CEO of Genomics England and Interim SRO for Data-NHSX, and Dr Richard Scott, the clinical lead for rare disease at Genomics England and consultant clinical geneticist at Great Ormond Street. Genomics England has led the UK into a new world of medicine with genetic sequencing, and it’s only just starting. Today, we’re focusing on the recently announced large scale human genome sequencing project launched by Genomics England in regards to COVID-19. From understanding individual response and drug development, listen to what Genomics England are hoping to understand about COVID-19. If you would like to volunteer for Genomics England's study on COVID19, sign up here: https://www.genomicsengland.co.uk/covid-19/
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.
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