We caught up with Dr Diana Baralle (Professor of Genomic Medicine at the University of Southampton and an Honorary Consultant in Clinical Genetics) ahead of the Festival of Genomics next week. Diana runs a translational research group that drives forward functional genomics to improve diagnosis. They investigate novel causes for rare disorders and in particular the role of RNA and splicing in genetic diseases.
FLG: Can you introduce yourself and your work?
I’m Diana Baralle, a clinical academic specialist in Clinical Genetics with an active clinical practice as well as a Professor of Genomic Medicine at the University of Southampton and a NIHR Research Professor working on maximising the potential of translational genomics for NHS patient care. In particular, investigating how RNA techniques and technologies can help with this. We know that we are missing mutations and that by looking at RNA we can close some of this gap. We work on developing RNA pipelines.
FLG: What do you enjoy the most about the work you’re doing?
As a doctor, it’s exciting and a joy for me to see how research impacts my patients and how quickly new forms of technology and testing can be translated to the clinic. So working hard in my own research to do that is a definite driver. I want to maximise the potential of translational genomics for patient care. I am lucky that my work is so varied day to day and that I am working at a time when change is happening fast.
FLG: Are there any challenges you face in your work?
Time! Not enough hours in the day. There is a lot to do, lots of great ideas and avenues to go down- clinics, undertaking research projects, supervising staff, writing papers, bidding for grant money, teaching, not to mention managing a household and spending time with my five children.
FLG: What motivated you to pursue a career in this field?
I have great admiration for my father who is an excellent scientist, and who definitely set me going in this field. It was inspiring to see what he had achieved. I was always intrigued by the genetic causes of disease and this was consolidated during my intercalated BSc at the Galton laboratory, UCL. It was during my junior doctor attachment at Great Ormond Street hospital where I cared for children with all sorts of rare disorders, that I saw how I could combine genetics research and clinical practice.
FLG: What do you think is the most exciting thing happening in genomics right now?
I’d have to say RNA. Using other omic technologies in general but especially RNA analysis. My research has shown that disease causing mutations are missed when we concentrate on genomics alone and that by including RNA we will pick up a significant number of them up. I aim to get this incorporated into clinical practice.
FLG: What breakthroughs do you see happening in 12 months or 5 years?
AI and machine learning are moving forward such that what we had trouble interpreting in our data before is becoming accessible.
FLG: Why are you speaking at the Festival of Genomics this year?
I was very pleased to be asked to come and speak this year especially as there is now a transcriptomics session. As above, I want to highlight that we can quickly make a big difference to our diagnostic pick up rate if we include RNA in our analysis. The Festival provides an excellent stage from which to do this.
