EP 41 Keith McArthur, the rare disease dad who is re-writing the rules in order to find a cure for his son - Live Podcast

July 25th, 2020  |  50 mins 27 secs

genetics, grin, patients, rare disease, research

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.

EP 40 Professor Sir Rory Collins on the origins and future of the UKBiobank

July 23rd, 2020  |  34 mins 58 secs

biobank, coronavirus, covid, covid19, genetics, medical research, medicine, 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.

Ep 39 How hundreds of scientists from 50 nations are collaborating on Slack to study genetics & COVID19 with Dr Andrea Ganna

July 9th, 2020  |  41 mins 56 secs

covid, covid 19, genetics, research, researchers, virus

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.

EP 38: Big Data in genomics - why we need 'the cloud' and AI to make sense of it all with Dr Maria Chatzou Dunford

June 30th, 2020  |  38 mins 45 secs

ai, big data, data, genetics, lifebit, maria chatzou dunford, the cloud

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 talk to Dr Maria Chatzou Dunford, CEO and Co-Founder of LifeBit, a company that wants to democratise analysis of genetic big data.

EP 37: The future of medical research post COVID

June 10th, 2020  |  44 mins 21 secs

coronavirus, covid, covid19, medical research, medicine, research

This week, we look at 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.

EP 36: Genomics England CEO Chris Wigley & Clinical Lead Richard Scott: sequencing 35,000 people with COVID19, the future of genomic medicine, and why patients are their 'north star'

May 27th, 2020  |  25 mins 18 secs

coronavirus, covid19, genetics, genomics england

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.

If you would like to volunteer for Genomics England's study on COVID19, sign up here: https://www.genomicsengland.co.uk/covid-19/

EP 35: 8 weeks in - what it’s like to have COVID-19 with Adelina Chalmers

May 13th, 2020  |  39 mins 56 secs

coronavirus, covid-19, covid19, virus

This week we talk about COVID19 and what it’s really like to have the virus. 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 the being just like the flu.

EP 34: 1 in 70 million - conversation with rare disease advocate David Rose

April 29th, 2020  |  28 mins 28 secs

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.

EP 33: Kat Arney on cancer research, epigenetics, and helping launch the ZOE app in the COVID19 crisis

April 15th, 2020  |  48 mins 18 secs

coronavirus, covid-19, covid19, epigenetics, genetics, genetics unzipped

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.

EP 32: DNA sequencing to find our roots and solve cold cases, the ethics of DNA databases with Debbie Kennett

April 1st, 2020  |  44 mins 55 secs

dna, genealogy, genetics

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.

EP 31: COVID-19 - the human response to the virus, and what the future may hold with Columbia University Virologist Dr Angela Rasmussen

March 20th, 2020  |  46 mins 44 secs

coronavirus, covid-19, covid19, genetics, virologist, virus

EP 30: Patient powered research networks - the future of medical research with Jillian Hastings Ward

March 17th, 2020  |  40 mins 39 secs

drug repurposing, genetics, medical research, rare disease, research

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.

EP 29: Is breath testing the new frontier in preventive medicine? Conversation with Billy Boyle, Founder and CEO of Owlstone Medical

March 5th, 2020  |  36 mins 54 secs

drug repurposing, genetics, medical research, rare disease, research

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.

EP 28: Drug repurposing for rare disease and the future of health with Dr Bruce Bloom (CCO of Healx) and Dr Mike Tranfaglia (CSO of FRAXA)

February 19th, 2020  |  1 hr 12 secs

drug repurposing, genetics, medical research, rare disease, research

Patrick is joined by Dr Bruce Bloom and Dr Mike Tranfaglia to discuss the future of health, the opportunities drug repurposing offers, and how machine learning fits in.

EP 27: From Big Data to New Medicines with Dr Jeff Barrett, CSO of Genomics PLC

February 6th, 2020  |  35 mins 6 secs

drug repurposing, genetics, medical research, rare disease, research

Patrick interviews Dr Jeff Barrett from Genomics PLC about how genetic data can be used for drug discovery and the future of precision medicine.

EP 26: Dr Matt Might: Ultra-rare disease advocate, precision medicine researcher, and Obama advisor

January 23rd, 2020  |  45 mins 57 secs

drug repurposing, genetics, medical research, rare disease, 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.