Behind the Genes

The genome itself was the beginning of a whole technological revolution. Matt and Chris talk about taking on the challenge, searching for the needle in the haystack, and making it work at scale! Join Chris and population geneticist Prof Matthew Hurles this week as they delve into the genetic detective work and the future of research while engaging the research and participant community. If you're a student wanting to get into the field, Matt gives his take on how to go about it. You can find our transcript here – https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Matthew-Hurles.docx. “The reference datasets of normal population variation in individuals of African ancestry are just smaller, and therefore less powerful than the ones of European ancestry. What we really need to do is enrich those African ancestry population datasets, that's something we really can hit on. I think that's a real global challenge." Prof Matt Hurles is Head of Human Genetics at the Wellcome Sanger Institute and Senior Group Leader of The Hurles Group. He is also the founder of Congenica and an honorary professor of Human Genetics and Genomics at the University of Cambridge. He leads the Deciphering Developmental Disorders (DDD) Study and the Prenatal Assessment of Genomes and Exomes (PAGE) Study. He also led the DECIPHER initiative that is enabling rare disease patients to share anonymised genetic and clinical data globally.

“I like ambitious visions, I like try to break the codes in order to get something to work to get a result. But on top of that, I want to make a change for the patient today, and a change for the future patients. And actually to use the knowledge and technology in order to change that to make a better healthcare system to make a better life for each patient today, each citizen.” Today, Chris Wigley, CEO of Genomics England is joined by Bettina Lundgren, CEO of the Danish National Genome Centre. They discuss Bettina's career, the importance of translating and understanding colleagues, and genome sequencing to benefit patients and to help find better treatments and cures.

"We took a look and we perform whole genome sequencing of Mila, her mother, her father, as well as her little brother. And we looked for something that might have been missed in those dark regions of the genome. And we found something quite unusual..." In Todays Episode, Dr Richard Scott, Chief Medical Officer of Genomics England is joined by Julia Vitarello, the mother of Mila, a young girl who was diagnosed with Battens Disease, and Dr Tim Yu, the doctor who designed a medicine just for her. We'll be hearing Mila's story and how Julia and Tim hope to help many more families access treatments for their children -- as they put it, from Mila to millions.

"I was driven by a personal desire to see this problem solved." On today's episode, Parker Moss, our Chief Ecosystems and Partnership Officer, is joined with Reed Jobs, the Managing Director of Health at Emerson Collective, a for-profit organisation focused on education, immigration reform, the environment, media and journalism, and health. Reed Jobs leads Emerson's team in the health care space. With a sole focus on oncology, his team accelerates the discovery and translation of cancer research to best improve and empower the lives of patients. They discuss venture capitol, venture philanthropy and philanthropy funding in cancer. They also discuss the origin story of Reed's career, how his father's (Steve Jobs) diagnosis launched him into his research and why.

"I know the power of a word, I know the power of a story, I know the power of a phrase, and language really is so meaningful and so valuable. […] Every data point has a face, there is a person there, it's not just a number, it's not just a code. Principle number two, treat people as you would like to be treated." On today's episode, Chris Wigley is joined by Rebecca Middleton, Vice Chair of the Participant Panel and founder of Hereditary Brain Aneurysm Support (HBA Support). They discuss Rebecca's clinical and genetic journey, her participation in the 100,000 genome project and what that meant for her. They also discuss the difficulty of having a rare disease, how the lack of information can cause great loneliness and uncertainty and why Rebecca opened HBA Support in response. Having lost family to brain aneurysms, and having undergone surgery for an aneurysm herself, Rebecca recently founded HBA Support and is establishing a patient-centred organisation to support patients and families living with familial brain aneurysm syndrome. For more information click here: https://hbasupport.org/