VTCT Foundation London Showcase: 8th July 2022
Interviewee: Steve Twigg, Becky Tooze, Yang Pei, Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford
Speaker slot: 15.15hrs: Building the skull – normal and abnormal development.
The Science Supporting Families Affected By Craniosynostosis
When the VTCT Foundation was created, we set outto invest in fellowships that attracted new talent to the visible difference arena and enabled researchers and clinicians to concentrate on areas of high-impact research.
We caught up with Steve Twigg to discuss his own VTCT-funded fellowship, his team’s work around craniosynostosis, and to find out how the Foundation’s new Career Development Awards are likely to help influence their work.
How are you connected with the VTCT Foundation?
[STEVE] My relationship with VTCT really started in 2019 when I was fortunate enough to secure a two-year fellowship. I began as a Postdoctoral researcherin the Oxford Clinical Genetics Group, and in June this year was appointed as Associate Professor of Developmental Genetics, so I certainly owe a lot from a personal development perspective.
What’s also become clear to me over the last few years is how a little funding can have a huge impact for groups like ours. A few years ago we were unsuccessful in renewing our funding and there was a very real danger that we’d need to reduce our team. In practical terms, this risked us losing momentum in the work were doing to investigate the causes of face and skull abnormalities, but fortunately my fellowship funding meant that I could stay on.
Fast forward a few years, and – thanks to VTCT’s support – we’re about to welcome a new PhD student to the team from Brazil. With the Foundation part-funding Juliana Heather Vedovato dos Santos’s three-year studentship, we hope to better understand how DNA changes cause abnormal skull development.
What influence might your research have on people’s lives?
[STEVE] With the research Juliana will be helping us with, ourgoal is to use what we learn to improve UK-wide NHS diagnostic testing – something that will have a valuable impact for families.
[YANG]We hope the work we do will help a lot of parents make better sense of their situation. Our findings in terms of human genetics and understanding how the skull develops will ultimately help us provide much better information for families.
[STEVE] I can’t stress enough how genetic diagnosis represents a really big deal for families. Not only can it end a diagnostic odyssey that might have been going on for years, it also opens the doors for better genetic counselling with options for family testing and specialist support.
Technological advancements and improvement in methods for evaluating the information we uncover are also really important, as they shed new light on how these conditions arise, helping understanding for affected families and improving the condition’s diagnosis.
And these clinical genetics findings stand to have a wider impact too. When we discover a new gene, this information is shared around the world and could end up in routine screening panels, which helps simplify the diagnosis process.
What drives you to continue your research in this specialist field?
[STEVE] Whilst cranial sutures usually fuse naturally after the brain is fully grown, for around 1 in 2,000 children this fusion occurs prematurely, either during the foetal development phase or in early infancy. As many as 350 children in the UK may be born with craniosynostosis every year, a condition that can lead to problems with vision, hearing, breathing and dentition, and which can have serious consequences for brain development.
The work we do to identify the underlying genetic causes behind this will help us understand why craniosynostosis occurs and provide invaluable information for patients and families. And that’s our primary motivation.
[BECKY] I’m lucky to be part of such a collaborative, multi-disciplinary team. But there’s no denying that when you’re in a lab you can be quite removed from the real world.
As scientists, we can get very involved in our specialist research. Opportunities to take a step back and hear from visible difference specialist charities about the impact our work is having on the ground – such as at the recent London Showcase event – are a great reminder of the value of what we’re doing, and the life-changing effect working together can have.