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
Ep 54 Genetic testing, breaking down stigma, and supporting people with Familial ALS with Daniel Barvin
In this episode of the Genetics Podcast we’re joined by Daniel Barvin, an ALS advocate whose family is affected by Familial ALS.
Daniel has a genetic variant in the gene called C9orf72 that predisposes him to develop this neurodegenerative disease, and he talks about his experience getting genetic testing and decision with his wife to undergo IVF and pre-implantation genetic diagnosis to ensure that their child did not inherit the genetic variant. Daniel joins Patrick to discuss the lack of availability of genetic testing in ALS, how to make genetic testing more accessible, breaking down stigmas in hereditary disease, and his work with the non-profit 'I AM ALS’.
Patrick also mentions the upcoming Festival Genomics with over 100 great speakers. You can find out more here: https://www.festivalofgenomics.com/
EP 53 Predictions and trends to watch for the year ahead with Jane Theaker, Phillip Beer, and Jason Mellad
This first episode of 2021 sees host Patrick Short talk to three insightful guests about their predictions for research and medicine in the year ahead. In this compilation episode, Patrick talks to Jane Theaker, Phillip Beer and Jason Mellad, each experts in their field.
Our guests are: Jane Theaker, the CEO of Kinomica Limited, a company at the fore of precision medicine that’s providing disruptive cell signalling technology. Jason Mellad, the CEO and Co-Founder of Start Codon a healthcare accelerator working to seed-fund truly disruptive healthcare start ups. Our final guest is Phillip Beer, a Physician scientist with expertise in clinical cancer genomics, early phase therapeutic development and biomarker discovery. Holds leadership roles in the commercial, healthcare and academic sectors.
EP 52 Population-scale viral sequencing with Dr Jeff Barrett, Lead Statistical Geneticist for COG-UK
On this episode of the podcast Patrick is joined by returning guest Dr Jeff Barrett. Jeff is the the lead statistical geneticist for The COVID-19 Genomics UK Consortium (COG-UK).
Patrick and Jeff discuss COG-UK's sequencing operation that is tracking viral spread around the UK, how to identify super spreader events from virus data, what is known about re-infection from COVID19, and results from the vaccine trials and what the next year may hold.
EP 51 20-year study of 55,000 Canadians: Alberta's Tomorrow Project with Dr Jennifer Vena
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.
EP 50 Dr Barry Singer, the MS doctor who is using technology to connect with patients and scale his impact
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.
EP 49 Genomics in education and the social sciences with Dr Daphne Martschenko
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.