Every month, one member of the TGMI team will tell us why they are so committed to the vision of the TGMI, and share a bit more about their work and interests.This week we hear from Caroline Wright, Senior Lecturer in Genomics at the University of Exeter.
What has been the main focus of your work to date?
I’ve changed fields a few times – from protein folding to public health policy to translational genomics – but I’ve always been motivated by using science to understand disease and improve health. Since 2011, I’ve been heavily involved in the Deciphering Developmental Disorders Study, and seen both the enormous benefits of genomic sequencing and the enormous challenges of interpreting the data.
What are you most excited about in genetic medicine?
The potential to make a molecular diagnosis for rare subsets of every disease.
What are you most concerned about in genetic medicine?
Overdiagnosis. The idea of screening people’s genomes for risk of future disease is so intuitively appealing, but the potential to do enormous harm to lots of healthy individuals is much less obvious.
Why did you get involved in TGMI?
There are still such large gaps in our knowledge that will prevent the effective and responsible translation of genome sequencing technologies into healthcare. Some of the information is out there, but isn’t systematically organised or easy to access, and some of the information still needs to be generated. I got involved in TGMI because I wanted to help bridge the knowledge gap.
What is the most important thing that you would like the TGMI to achieve?
Reducing the hype and simplifying some of the complexity in genomics, so that genetic medicine is faster, safer, and more effective for the vast majority of people.
If you had a magic wand (i.e. unlimited people/resources) what would you do to make genetic medicine work?I would really like to employ some people to weed out all the benign variants that don’t cause disease from databases of disease-causing variation because misinformation is so much worse than absence of information.
More expensively, I would invest in developing much better in vitro cell-based models for every human tissue and organ, which could be used not only to understand why particular genetic variants cause disease and how they perturb molecular networks, but also to test potential therapeutics. I would also really like to solve the 3D structure for every human protein, as it would help understand the effect of all those missense variants!
Do you have a favourite gene? If so – what and why?
I worked on titin in my PhD (mostly focusing on just one of the many immunoglobulin domains from the megaprotein) so it will always have a special place in my heart. But I’m usually most excited about whatever I’m currently working on, so my favourite gene changes quite regularly!
What is a surprising fact that few people know about you?
I love to draw animals and wildlife, and sometimes do pet portraits for people.
If you had a chance to experience a completely different career for a week, what job would you try?
Film composer – obviously for a fabulously successful film!.