Behind the Genes

"Humans are fantastically complicated, with 37 trillion cells and we don’t even know how many different cell types there are. But’s there’s a place to build from now. Having AlphaFold is like having a Rosetta Stone to translate; you couldn’t read the language of proteins - sequence defining structure and function - before." 

Tim Hubbard is a Professor of Bioinformatics, Head of the Department of Medical and Molecular Genetics at King's College London, and also a Senior Advisor to Genomics England. And no wonder, with so many achievements under his belt; Tim has had a vital role in the Human Genome Project - where the first human genome was mapped and annotated in Ensembl and Gencode - as well as in co-organising Critical Assessment of Structure Prediction (CASP) competitions for several years.

In this episode, Tim tells Chris about how he first got hooked on bioinformatics before it was formalised as a field, and how the breakthrough with AlphaFold means a better understanding between genomics and healthcare.

Find out more about AlphaFold, the AI system that has made a huge scientific breakthrough and solved a 50-year grand challenge.

"I would like genomics to be more spoken about. There's still a concern that genomics is going to be used to get rid of certain types of disorders, but it has an enormous potential to make everyone's lives better. Understanding genomics is a really important thing."

Driven by his infant daughter's rare form of epilepsy, Charlie established an international collaboration to investigate with new technology how genetics might be affecting her and other children with severe epilepsy.

Charlie Steward is a passionate patient advocate thanks to where life has led him and his family - starting as an academic researcher in genomics and then, after his children were born, becoming a Patient Advocacy and Engagement Lead at Congenica, ideally putting him in a position to bridge the gap between research and patients.

"Giving people the confidence and capabilities to use data to find insights that can then improve lives is absolutely central to what we need to do over the years to come."

Chris spoke to Matt Hancock, Secretary of State for Health and Social Care, at the end of 2020, reflecting on the UK's response to the COVID-19 pandemic so far and discussing how data - used appropriately and correctly - is the key to improving mainstream healthcare and, ultimately, people's daily lives.

"What is a good deal for both sides? This isn't about science taking from people. This is about science genuinely offering a partnership."

How do we engage people in science and trickier subjects like genomics?

Professor Anna Middleton is a social scientist and genetic counsellor.

In this episode, Chris and Anna explore ways to springboard genomics into people's awareness and engaging in a two-way conversation about it, especially when genomics might already be part of their lives in ways they don't realise.

"Since the beginning of the outbreak, we've had literally hundreds of drugs on the table available to us that will target the immune system, to try to stop lung damage and COVID. And really, very little hard evidence on which to base the decision about which one to use next, and genetics really does lead us."

Doing one of the most important jobs during the COVID-19 pandemic, Dr Kenneth Baillie is not only looking after patients in intensive care, but also looking at why some people are having such severe reactions to the SARS-CoV-2 virus.

In this episode, Chris and Kenny cover how he made the jump from studying the effects of going up mountains on the human body, to helping critically ill people and their families at the most difficult times in their lives.

"Eventually, it'll be pervasive and we won't even use the term 'genomic medicine' because it will be medicine."

Dr Eric Topol, Director and Founder of the Scripps Research Translational Institute, is one of science’s most innovative thinkers, a leading physician, and author of The Topol Review. In our first episode, Chris and Eric talk about the evolution of genomics, the importance of patients being at the heart of decision-making, and how they deserve to be given better insights about their healthcare.

Join Chris Wigley, CEO of Genomics England, for discussions about all things genomics.