'The Splice of Life' - A Q&A with Professor Diana Baralle

Diana Baralle, Professor of Genomic Medicine gave her inaugural lecture this week to a packed audience. She not only talked about what an amazing time it has been to work in the field of genetics where the genome can now be sequenced in under 24 hours, but also the personal challenges she has experience along the way and how they have contributed to her being a better doctor and scientist. Here she tells us about her current research and what excites her about the future.

Name: Diana Baralle
Position: Professor of Genomic Medicine
Research field: Genetics

 

What is your current research focus?

I run a translational research group that drives forward functional genomics to improve diagnosis. I investigate novel causes for rare disorders and in particular the role of RNA and splicing in genetic disease.

It is important to have a diagnosis for many reasons: prognosis, management, understanding of disease, prenatal testing, family cascade testing, treatment and future research.  Having a genetic diagnosis will also facilitate personalized medicine.


What have been your biggest ‘eureka’ moments in this field?

I don’t think there has been ‘one’ eureka moment really. But instead I worry that I have too many eureka moments all the time! The difficult thing is deciding which are realistic and which to take forward.

I have however had many inspirational moments during my career. My father is a scientist and I always admired him. He sowed the seed of enthusiasm for science. I worked at Great Ormond Street hospital as a junior doctor where I was constantly faced with rare disorders, and I asked myself how and why?


How would you describe the rate of progress in your research field that you’ve witnessed?

Light speed…

Genetics and genomics are revolutionizing medicine. The technology used to look at genes now is amazing. As I said we can now sequence a whole genome in 24 hours. Of course after that we have to interpret the data produced.


How has the role of women in scientific research changed during the course of your career?

I’m not sure it’s changed and I still worry that we are losing too many women mid-career. It was not easy to be a doctor full time with on-call duty and then run a research lab with children. My husband was a great support and it would have been impossible without him. I would like to see better child care provision and flexible working in this country to help women (and men) with families.

I was inspired however by the genetics department in Southampton – there were already three female professors in genetics here. I don’t think there was another place like that in the UK.


What would you say is your proudest career achievement?

Probably graduating in Medicine mid-chemotherapy for Hodgkins Lymphoma.


What excites you most about the future of your research field?

The advances in sequencing technology alongside the drop in cost and increased accessibility mean that we are able to do more than ever before. We can sequence DNA and RNA. We can even do this in single cells. This alongside computing advances are pushing forward the interpretation of the data for patient benefit.