Behind the Genes

"Every disease is a rare disease because it's a disease in you, and it's interacting with you. So, this idea that there are rare diseases, and there are common diseases, [is] kind of nonsense because everything is rare in the context of a given human being."

On today's episode, our CEO, Chris Wigley, is joined by Dr Lucy McKay, CEO and founder of Medics for Rare Diseases. Medics for Rare Diseases is a grassroots charity created to change the attitude towards rare diseases and changing the ground for people with rare diseases. 

Together, they discuss Lucy's genomics background, delving into her personal relationship to rare disease through her brother and how a conversation at the dinner table with her parents opened the door to many opportunities. They also cover the impact of using terminology such as 'disease' and 'rare' towards patients and in classrooms. 

"In cancer, it's been more challenging, because we had to get a community that hadn't really worked on the scale of data at all, to come to terms with that."

On today's episode, Matt Brown, our Chief Scientific Officer at Genomics England is joined by professor Sir Mark Caulfield, one of the founding employees of Genomics England and predecessor to Matt Brown as Chief Scientific Officer. 

Today, they'll be discussing Mark's recollections of his time as Chief Scientific Officer of Genomics England, and his thoughts about pharmacogenomics' future.

"Biomedical datasets are biased towards Western white rich men typically. This means that historically underserved groups are less likely to be represented in the data."

Today, Maxine Mackintosh, the Programme Lead for Diverse Data at Genomics England, is joined by Alisha Davies from Public Health Wales and the Alan Turing Institute, and Brieuc Lehmann, from UCL, and both of whom are involved in the data science for Health Equity community.

They discuss the role of data and data science in promoting and improving health equity. They also talk about the lack of representation and diversity in genome research and how and why this must change.

"Chris had been somewhere between a father and a brother to people in Downing Street. He wasn't just principal private secretary."

 

Today, Vivienne Parry, our Head of Public Engagement at Genomics England is joined by BBC journalist Zoe Conway whose husband, Chris Martin, died of a rare form of sarcoma in 2015. 

 

They discuss the story of Chris Martin and his sarcoma journey. They talk about how difficult it is to diagnose sarcoma and its subtypes. They also discuss how it affected him whilst being David Cameron's Principal Private Secretary. 

"To gain information and insight into these, particularly, rare tumors, we will have to collect them for many, many years."

 

Today, Vivienne Parry, our Head of Public Engagement at Genomics England is joined by Professor Adrienne Flanagan. She is the professor of musculoskeletal pathology at UCL and is perhaps the most distinguished academic in this field in Europe. She has made major contributions to the biology of osteoclasts in conditions such as osteopetrosis and made a major advance with her discovery of the locus for the gene causing cherubism. Adrienne has also been very proactive in developing collaborative links to advance genetic studies in sarcomas. 

 

Together, they discuss the symptoms of sarcoma, what sarcoma is and its different subtypes. They also discuss the changes in Sarcoma research through genome sequencing and its future in the field of medicine. 

"Mutations are the price that all animals must pay, starting with jellyfish all the way up to us humans"

Today, Parker Moss, our Chief Commercial Officer is joined by Professor Robert (Bob) Weinberg. Professor Weinberg is a founding member of the Whitehead Institute for Biomedical Research and is a well-respected Professor in the MIT Department of Biology. He is the author of the legendary paper, the Hallmarks of Cancer, which was one of the most cited papers on life sciences of all time, and still provides us with much of the language of modern cancer biology. 

They discuss why cancer occurs, why it spreads, the challenges and the hopes for early detection, and how research is contributing to improving survival for patients around the world.  

"We need to think about Genomics and we need to think about education because both are going to massively, massively change, and improve. I think we will be living in a very different space [in 30 years] than we are now...we are at the tip of the Iceberg."

In this episode, our CEO Chris Wigley is joined by Professor Kate Tatton Brown who is the Clinical Director and Head of the Genomics Education Programme at Health Education England. She's also a consultant in clinical genetics at St. George's University Hospital, and a Professor in clinical genetics and genomics education with St. George's, within the University of London. 

Together, they discuss Kate's pursuit of education for others around the complex topics of genomic medicine and research. Delving into the fundamentals of undergraduate and postgraduate curriculum changes, NHS involvement in genomic healthcare and the necessity of moving forward within research. They also discuss the importance of genomic awareness, access to testing and their project GeNotes - genomic notes for clinicians. 

“We are now in a world where there is this an abundance of data, which is only the beginning to what we're likely to be able to see in the coming years. At the same time, we have this incredible set of machine learning methods [...]. This seems to be a moment in time when those two tidal waves are about to come together in a way that offers us the opportunity to unlock some of the underlying secrets and complexities that underlie human health and human disease.”

This week we are sharing for posterity the discussion that Parker Moss, our Chief Commercial Officer, hosted earlier this month at the Genomics England Research Summit. Parker’s discussion was with the world renowned Daphne Koller, the founder and CEO of insitro.

Parker and Daphne explored the use of AI and machine learning in drug discovery and discussed the value of multimodal analysis. They also touched on some of the challenges of causal inference and target validation with unsupervised machine learning methodologies. Parker and Daphne then discussed the recent partnership between Genomics England and insitro.

“What will be important is to engage with the patient community, it will be a very important process to complement the science that we are doing and to engage with those ultimate end users. That is the beauty of having these conversations with the people who are going to eventually end up adopting the technology.”

Today's episode is a little different. We are sharing a live recording of a recent discussion at the Public Policy Projects Global Genomics Conference between Chris Wigley, our CEO, and Dr Genya Dana, Global Head of Health Policy at Avellino.

In their conversation, they delved into all things policy, such as data, ethics and education as genomics comes into the mainstream of healthcare and society. They also discussed the importance of engaging with the participant community and Dr Genya Dana’s work in the Precision Medicine Department at the World Economic Forum.

"If we had the same immune system, all of us, then we would be extinct by now"

 

On todays episode, our CEO, Chris Wigley, is joined with Professor, Sir Munir Pirmohamed, a British clinical pharmacologist and geneticist. Munir is also the NHS chair of Pharmacogenomics at the University of Liverpool. 

They discuss the importance of pharmaceutical drug development, understanding genome structures to better identify and predict diseases and how our lifestyle choices can lead to variation in how our genes  interact with drugs. They also delve into the complexity of pharmacogenomic decisions, discussing, taking into account both clinical and genomic factors.