Behind the Genes

Dr Euan Ashley: The power of answers

“The place where the genome has really had this massive impact over the last decade has been in rare disease, and in particular patients with undiagnosed disease. They are on these medical odysseys, often for years and years, going from doctor to doctor just accumulating emotional and financial burden without answers. The genome is such a powerful tool to solve these cases.” 

In this week’s episode of The G Word #sciencepodcast, our CEO Chris Wigley is joined by Dr Euan Ashley, Professor of Medicine and Genetics at Stanford University, Non-Executive Board Member at AstraZeneca and author. Euan led the team that carried out the first medical interpretation of a human genome and the first whole genome molecular autopsy and has co-founded numerous companies. 

Today Euan talks about his book, ‘The Genome Odyssey,’ his group’s work on the first clinical interpretation of a human genome and his work with Personalis. He also discusses his interests during childhood and his early career.  

Dr Mavis Machirori: Data, tech, justice and equalities

“Let's take a pause and think about what we know from history about health and social inequalities, and what the technology is doing to that. Is it making it better for some people? Is it making it worse?” 

In this week’s episode of The G Word #sciencepodcast, Rich Scott is joined by Dr Mavis Machirori. Senior Researcher at the Ada Lovelace Institute, Mavis works at the intersection of data and tech and justice and equalities, with a particular interest in genomic data and the health and social inequalities that have emerged during the Covid pandemic.  

Today Mavis talks about her work at the Ada Lovelace Institute, her background in midwifery and diversity. She also discusses what matters to people and misinformation during the pandemic.   

 

Professor Dame Sue Hill: The field of genomics

“Since 1953, when DNA was discovered by Watson and Crick and supported by Franklin, the NHS had already been focusing on genetic diseases. From the 1960’s, NHS genetic labs were born. Since that time, with the initiation of the Human Genome Project, we got to understand that it was possible to sequence all 3 billion + letters - A, C, G, A T - a human genome.”

This week on The G Word, Chris Wigley is joined by Professor Dame Sue Hill, Chief Scientific Officer and Senior Responsible Officer for Genomics in NHS England.

Sue and Chris talk about how the field of genomics has gone from being a curiosity-driven science to being mainstream since we got first sight of the whole human genome 2 decades ago. They talk about the NHS Genomic Medicine Service, our recent public dialogue for genomics in newborn screening, and about predictive, preventive, personalised medicine.

Augusto Rendon: Bioinformatics at the heart of Genomics England

"Within the wider framework of personalised medicine, trying to identify treatments, diagnosis, prognosis, that is about a personalised individual. Genomics plays a really important role because our genomes are unique. Bioinformatics is there to try to identify how those genomes are unique and what they tell us about the consequences of those differences."

In this week’s episode of The G Word #sciencepodcast, Anna Tomlinson, the Chief Communications and Engagement Officer at Genomics England, is joined by Augusto Rendon, the Chief Bioinformatician at Genomics England and the architect and facilitator of our bioinformatics infrastructure. Augusto has a wealth of experience in deploying whole genome sequencing in healthcare. He is a research scientist with a vast background in computational biology and statistical genomics and he coordinated the delivery of various bioinformatics and analytics solutions for the 100,000 Genomes Project.

Today, Augusto talks about the use and anonymisation of data, the role of bioinformatics at Genomics England, personalised treatments and the multidisciplinary aspect of bioinformatics.

 

Ewan Birney: The human genome

“It's not the number of genes that matter, it's how you use them - quite literally how you switch them on and off. There's a lot of complexity in the human genome, not in the types of genes, the building blocks, the types of Lego, but how you put that Lego together inside each cell, which genes are on and which are off. And, you know, it's still unclear just how all of that works.” 

In this week’s episode of The G Word #sciencepodcast, Rich Scott is joined by Ewan Birney, bioinformatician, Deputy Director General of EMBL and Non-Executive Director at Genomics England. Ewan led the analysis of the Human Genome gene set, mouse and chicken genomes and the ENCODE project and his main areas of research include functional genomics, DNA algorithms, statistical methods to analyse genomic information and use of images for chromatin structure. 

Today, Ewan talks about his work with the Human Genome Project, the sense of community amongst bioinformaticians and advances in leveraging genomic information. He also talks about which big topics don’t get enough attention and his research group. 

Hopkins Van Mil: The significance of public dialogue

“Public dialogue allows citizens, people, members of the public, people like you and me, and broader than that, to come together, to learn about an issue, to talk with specialists in that issue, to engage with each other in that space, and to consider a whole range of diverse perspectives.”

In this week’s episode of The G Word, our CEO Chris Wigley is joined by Henrietta Hopkins, the Director, Insight and Innovation at Hopkins Van Mil. Henrietta is an expert Lead Facilitator and designer of deliberative dialogue research with a particular interest in bringing creativity to public and stakeholder engagement and capacity building.  Chris is also joined today by Suzannah Kinsella, Senior Associate at Hopkins Van Mil. She designs engagement activities that help people to influence policies and services in informed and constructive ways. They have both have been involved in a number of specialist dialogue projects run by Hopkins Van Mil, including The National Food Strategy public dialogue and Public dialogues for the Royal Society on gene editing, and neural interfaces.

Today, the group talks about public dialogue, genetic technology and the exploration of the potential for a newborn sequencing programme Hopkins Van Mil has been working on. They discuss how newborn sequencing can help understand the prevalence of rare diseases and develop treatments and how public dialogue allows people to learn, engage and talk to specialists.

Saskia Sanderson: Getting ordinary people to the table

“Why wouldn't we, as a society, seriously start debating the earliest appropriate age where we should start using genomics, not only for treatment and diagnosis, but also for prevention and facilitating earlier detection? Maybe for some it's 18, maybe for others it's childhood - but these are the sorts of questions that we should be debating.” 

In this week’s episode of The G Word #sciencepodcast, our CEO Chris Wigley is joined by Saskia Sanderson, Chief Behavioural Scientist at Our Future Health and chartered psychologist. Saskia has a particular interest in applying psychology to translate genomics into better ways to help others, is a freelancer at PHG Foundation and is former Senior Research Social Scientist at Great Ormond Street. 

Today, Saskia talks about polygenic risk scores, how scientific research affects real people and sharing GP’s patient data. She also talks about her early career and how we can facilitate public debate. 

Helen Stokes-Lampard: Social prescribing and equity of access

“I see a future where people's whole genome will be known at a very early stage in their life, and we will be able to look at social factors and health inequalities and target help and support earlier for those in greater need. There will be huge logistical challenges, of course, but this technology isn't going away, this is here. It's how we apply it for the greatest good that matters.” 

In this week’s episode of The G Word #sciencepodcast, our CEO Chris Wigley is joined by Helen Stokes-Lampard, Chair of the Academy of Medical Royal Colleges, Professor of GP Education at the University of Birmingham and Chair of the National Academy for Social Prescribing. Still a practising GP in Staffordshire, Helen is a huge advocate for mental health and has published several papers on women’s health and COVID-19.  

Today, Helen talks about equity of access for patients, social prescribing and genomics. She also talks about her early career and her role as Chair of the Academy of Medical Royal Colleges.  

 

GenOMICC COVID-19 Study: Genomics and COVID-19

“Most of the genome is the same for everyone, but there are some places where you can have some variation. This variation, in this case between the people who had severe COVID-19 and the general population, highlights certain areas of the genome. Our job is to try to understand this region.” 

In this week’s episode of The G Word #sciencepodcast, our CEO Chris Wigley is joined by Erola Pairo-Castineira, Suzi Walker, Athanasios Kousathanas and Dorota Pasko, all members of a collaborative effort between Genomics England and the GenOMICC consortium, led by the University of Edinburgh, to utilise genomics to better understand the human response to COVID-19. 

The group talk about the publication of their findings in Nature, whole genome sequencing and 100K participants and their value as validation cohort. They also talk about CloudRE and their plans for the future.  

Dr Patrick Short: Revolutionising research

“It's a real power of some of the translational research that's being done that you can not only answer interesting, fundamental biological questions, but also impact people directly in the process.” 

In this week’s episode of The G Word, our CEO Chris Wigley is joined by Dr Patrick Short, genomic researcher, bioinformatician and Co-Founder and CEO of Sano Genetics. For his PhD Patrick worked on the Deciphering Developmental Disorders (DDD) project, with his findings and methods being used in Genomics England's 100k analysis, and he has designed and taught courses on machine learning and data science at Cambridge Spark.  

Today Patrick talks about the human aspect of research, precision medicine research and industry access to data. He also discusses the Deciphering Developmental Disorders project and his work with Sano Genetics.