Baralle, Professor Diana

Dr Diana BaralleBSc MBBS MD FRCP

Specialty

Clinical genetics

Training and education

  • BSc genetics - University College, University of London, 1990
  • MBBS - University College, University of London, 1993
  • MD - University of London, 2005

Experience

Prof Baralle has worked for the Trust since September 2007. She's the lead consultant for general clinical genetics clinics in Winchester and Salisbury, as well as the ophthalmological genetics multidisciplinary clinic. Prof Baralle is also the clinical genetics lead for the CLRN (comprehensive local research network) and research and development.

Prior to joining the Trust, Prof Baralle worked as a senior lecturer in Cambridge.

Prof Baralle is a professor of genomic medicine. At the University of Southampton, she's a principal investigator in human development and health in the faculty of medicine and programme lead for the master's in genomic medicine.

Awards and prizes

  • Action Medical Research Duncan Guthrie award
  • EURASNET Young Investigator award
  • HEFCE senior clinical lecturer award

Research

Prof Baralle leads a group that investigates the role of RNA splicing in genetic disease. In particular, the group looks at how the mechanism of splicing is affected by gene mutations, what this teaches us about the complex mechanism of splicing, developing diagnostic testing and ultimately how this can be altered to prevent or alter disease and therapeutics.

She works with Genomics England to incorporate RNA diagnostics and transcriptomics into clinical service through developing a functional genomics service. In addition, she researches methods to make new diagnoses in rare diseases - examples include PURA syndrome and TRIO syndrome.

Information on Prof Baralle's research and publications is available on the University of Southampton website.