Behind the Genes

Julia Vitarello: Mila’s story - from Mila to millions

"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. 

Reed Jobs: Philanthropy and venture funding the future of cancer care

"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. 

Rebecca Middleton: The patient’s voice

"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/  

 

Georgia Whitton: Changing course

"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. 

Professor Martin Levermore: HDR UK’s Black Internship Programme

"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. 

Lucy McKay: Opening the door to rare diseases

"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. 

Professor Sir Mark Caulfield: The predecessor’s view

 "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.

Data science: The need for health equity

"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.

Zoe Conway: Sarcoma awareness month, part 2

"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. 

Adrienne Flanagan: Sarcoma awareness month, part 1

"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.