Behind the Genes

"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/    

"Getting your genetic information isn't just [of] your own, it belongs to your ancestry too."   On today's episode of The G Word, Chris Wigley, our CEO is joined by Georgia Whitton, the Senior Genomic Data Scientist at the Wellcome Sanger Institute. She is also a broadcaster on YouTube. She hosts 'Genomics with Georgia', and is bringing new talent into the tech and science field through volunteering with Code First Girls and many other great activities. From aspiring actress to senior genomic data scientist, Georgia walks us through her genomic journey, starting with her A-level choices to deciding which variant of COVID-19 was infecting the UK. Chris and Georgia also discuss her current work in genomics surveillance and amplicon sequencing of malaria. 

"It's so important to have companies that represent [black] people. Because if you see people like you, who look like you, you're gonna feel like they have your best intentions." On Today's episode of The G Word, Sophia, the Design Researcher for our Diverse Data team, is joined by Professor Martin Levermore, hub member and pioneer of the programme, alongside two of the programme's interns, Samuel and Mbasan.  They discuss the need for black talents in genomics and how the Black Internship Programme is breaking barriers to enable the diversification process. They also discuss the importance of representation when asking for sensitive information from unrepresented communities, breaking the distrust to gain a broader insight into our genomic data. 

"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 of The G Word, 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 on The G Word, 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 on The G Word, 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 on The G Word, 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 on The G Word, 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 of The G Word, 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.