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 world...
Jun 10, 2020•44 hr 22 min•Transcript available on Metacast 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 its only just starting. Today, were focusing on the r...
May 27, 2020•25 hr 19 min•Transcript available on Metacast This week we talk about COVID19 and what its 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 ho...
May 13, 2020•40 hr 57 min•Transcript available on Metacast Whats it like having a disease so rare, youre misdiagnosed? Or youre 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. Hes the only known person in the UK to have occipital horn syndrome and he tells us what its like to live with a rare disease - and why we should all be more aware of rare di...
Apr 29, 2020•28 hr 29 min•Transcript available on Metacast 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 he...
Apr 15, 2020•48 hr 19 min•Transcript available on Metacast 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 innovat...
Apr 01, 2020•45 hr 56 min•Transcript available on Metacast In this weeks 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.
Mar 20, 2020•47 hr 45 min•Transcript available on Metacast 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 fund...
Mar 17, 2020•41 hr 40 min•Transcript available on Metacast 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 ...
Mar 05, 2020•37 hr 55 min•Transcript available on Metacast 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 theyve been doing.
Feb 19, 2020•1 hr•Transcript available on Metacast 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.
Feb 06, 2020•35 hr 6 min•Transcript available on Metacast 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.
Jan 23, 2020•46 hr 57 min•Transcript available on Metacast Patrick talks to Dr Mahsa Shabani, a researcher at the Centre for Biomedical Ethics and Law, University of Leuven. From the golden state killer to blockchain, they discuss the latest ethical issues in genetics. They look at data sharing and involvement of patients in genomics research, and talk about Dr Shabanis most recent paper, which looks at the ethical concerns with motivations for those who want to make their data available for research. Asking if people are choosing to share their data fo...
Dec 24, 2019•37 hr 53 min•Transcript available on Metacast Dr Patrick Short talks to Gemma Stunt about her son Berties diagnosis of Duchenne muscular dystrophy, how to get involved in clinical trials and what life is really like with a currently incurable genetic condition.
Dec 06, 2019•44 hr 43 min•Transcript available on Metacast Our guest this week is Dr Yan Shao from The Wellcome Sanger Institute, a non-profit British genomics and genetics research institute. In this episode, Dr Shao discusses the findings from his most recent study; where he and his team found significant differences in the microbiomes of newborn babies depending on delivery method.
Nov 21, 2019•35 hr 34 min•Transcript available on Metacast Get to know a little bit more about our new scientific advisor Dr Paul Wicks. Paul has dedicated much of his career to patient-centric research and building patient communities, particularly in rare disease. Paul has spent 17 years in the digital health and online community space, 13 of which were spent as a senior leader at PatientsLikeMe.
Oct 29, 2019•1 hr 1 min•Transcript available on Metacast This week on our podcast, we speak to Xing Xu from Dash Genomics and Renee George from HealthLytix about Alzheimer's disease.Dash Genomics has partnered with HealthLytix to produce a new model that helps you understand your individual risk of Alzheimer's disease. All you have to do is upload your DNA data from a consumer DNA test like Ancestry.com or 23andme. They then use research from two major universities to estimate your personalised risk for the condition.
Oct 08, 2019•39 hr 46 min•Transcript available on Metacast In this episode Patrick Short speaks with Allison Watson the co-founder and secretary of Ring20 Research and Support UK patient organisation and the co-chair of EpiCAREs patient advisory group. Allison discusses the Ring Chromosome 20 syndrome and the work of Ring20 Research and Support UK.
Oct 04, 2019•46 hr 3 min•Transcript available on Metacast This episode was originally recorded forCUTalks, the podcast of the Cambridge University Technology & Enterprise club. In this podcast, CEO and Co-founder Dr Patrick Short discussesthe personalised genomics industry, as well as his journey from PhD to founderand some important lessons he learnt along the way.
Sep 25, 2019•31 hr 53 min•Transcript available on Metacast Our guest this week is Elin Haf Davies, who is the CEO of Aparito - a technology company that focuses on patient-generated health data. Elin is also an inspirational speaker, trans-atlantic rower and pediatric nurse. In this episode we discuss clinical trials, the use of technologyin patient-centric studies and the work of Aparito.
Sep 19, 2019•36 hr 4 min•Transcript available on Metacast Last week, the shocking story that sick migrants undergoing lifesaving care can now be deported hit the NY times - but what effect will it have on clinical trials in America? Find out in this episode of our podcast, where we discuss the top four genetic news stories from September 2019. Also featured in this episode: A 500,000 genome wide study into the genetics of homosexuality, the FDA getting stricter on pharmacogenomic tests and new epigenetic signatures in Alzheimers.
Sep 10, 2019•25 hr•Transcript available on Metacast This week on our podcast, we speak to Alastair Kent, a world leader in policy development and patient engagement for rare disease. In this episode, we discuss how research is changing in rare conditions and what part DNA sequencing and data sharing are playing in this.
Sep 06, 2019•1 hr 8 min•Transcript available on Metacast This week on our podcast we speak to Kira Dineen, a genetic counsellor in training and host of DNA Today. We ask Kira what shes learned from more than 200 hours of conversation with leading doctors and researchers in genetics, as well as some questions about genetic counselling and her experience.This is part one of a special two-part episode. The other half of the podcast will be featured on DNA Today so make sure you head over to DNA Today for the rest!
Aug 23, 2019•34 hr 13 min•Transcript available on Metacast In this episode, we cover the latest genetics news stories including; 1) 23andMes plan to start collecting health data 2) New research thats sounding alarm bells about the accuracy of genotyping tests 3) The largest-ever study of genetics and PTSD 4) A new $160 million round of funding for a SanFrancisco-based company working on the early detection of cancer 5) A breakthrough cure for another rare disease, amyloidosis, thats just been approved in the UK
Aug 21, 2019•30 hr 40 min•Transcript available on Metacast Dr. Alicia Martin, a researcher at the Massachusets General Hospital and the Broad Institute of MIT and Harvard, discusses the issues surroundingEurocentricity in genetics studies.
Aug 13, 2019•34 hr 2 min•Transcript available on Metacast Dr Patrick Short answers the top genetic questions on quora. Which include: 1)How reliable is the DNA testing offered by sites like Ancestry.com or 23andMe? 2)Does DNA testing for diet and fitness really work? 3)Does 23andMe provide accurate results for people of Indian heritage? 4)How much of the genome does 23andMe sequence? Can their data be used to study disease? 5) How seriously would you take the DNA ancestry and health reports from a place like 23andMe?
Aug 06, 2019•11 hr 56 min•Transcript available on Metacast We recently held an event bringing together charities and patient registries to help them take the next step in doing genetic research. One of our speakers was Neil Bennett, the Director of Research at Action Duchenne and he discussed how they set up a patient registry as well as their approach to the challenges and opportunities in doing genetic research. Action Duchenne was formed in 2001 and was the first national charitydedicated to supporting those living with Duchenne Muscular Dystrophy.
Jul 31, 2019•13 hr 38 min•Transcript available on Metacast We had the pleasure of speaking with Dr Eric Topol, author of The Patient Will See You Now and Deep Medicine. Eric has had an incredible career which has been largely focused on researching cardiovascular disease and heart attacks, both of which he worked on in the Cleveland Clinic and Scripps Institute.In this episode, we discuss wireless medicine and the role of artificial intelligence and machine learning in medicine and healthcare.
Jul 23, 2019•38 hr 24 min•Transcript available on Metacast Human Genetics Researcher Joe Pickrell is the CEO of Gencove who offer low-pass sequencing technology which is both cost-efficient and provides highly accurate variant calls across the whole genome. Having trained as a statistical geneticist, Joe discusses his early work with Jonathan Pritchard, developer of Structure and his work at the New York Genome Center to reduce the cost of whole-genome sequencing using computational methods such as imputation. This interesting discussion covers a range ...
Jul 16, 2019•36 hr 46 min•Transcript available on Metacast Sano Genetics CEO Dr Patrick Short interviews Dr Sonya Abraham, a researcher at Imperial College, London who looks at different conditions like arthritis and psoriasis to discuss biological therapies (or biologics) and how the gut microbiome affects these treatments.
Jul 09, 2019•18 hr 35 min•Transcript available on Metacast 
