Professor Diana Baralle BSc, MBBS, MD, FRCP

Professor of Genomic Medicine and Consultant in Clinical Genetics

As a Professor of Genomic Medicine and Clinical Geneticist, my research is translational and spans clinical phenotyping and genotyping, diagnostic methods and molecular mechanisms. The clinic provides a rich resource for genetics and genomics research finding new causes for rare disorders. Improving diagnostic analyses through genomics and transcriptomics is an exciting opportunity at the University of Southampton.  

Prof. Diana Baralle was appointed to a personal chair at the University of Southampton Faculty of Medicine in 2016 and  awarded the prestigious NIHR Research Professorship in 2017. Having graduated in medicine from the University of London, she trained first in Paediatrics and then Clinical Genetics. She completed her MD and research training fellowship in the Department of Pathology, Cambridge University working on the molecular pathology of NF1. She held an academic position in Cambridge before her current appointment in Southampton and combines her clinical work with her research interests.

Dr Baralle’s leads a group that investigates the role of RNA and splicing in genetic disease. Complimentary to this is research into new methods for genetic diagnostic testing, diagnostic RNA testing and causes of dysmorphology syndromes. She is also clinical specialty lead for Genetics for the Wessex CLRN. Her research is based within the Faculty of Medicine Human Development and Health Department. Her group comprises both clinical and non-clinical scientists and students.

She is a consultant in Clinical Genetics at University Hospital Southampton NHS Foundation Trust, and has general genetics clinics as well as a specialist oculogenetics clinic.

Degree Qualifications

BSc Genetics, University College, University of London 1990
MBBS University College, University of London 1993
MD University of London 2005
FRCP Royal College of Physicians 2011

Appointments

NIHR Research Professor, University of Southampton 2017 - present

Professor of Genomic Medicine and Honorary Consultant Clinical Genetics University of Southampton and Southampton University Hospitals NHS Trust 2017-2017.

Hefce Senior Clinical Lecturer and Honorary Consultant. University of Southampton and Southampton University Hospitals NHS Trust 2011- 2016.

Consultant and Honorary Senior Lecturer. Wessex Clinical Genetics Department , Southampton University Hospitals NHS Trust. 2007-2011.

Senior Lecturer and Honorary Consultant. Department of Medical Genetics, University of Cambridge and Addenbrookes Hospital, Cambridge. 2003-2007.

Research Training Fellow/Hon.Specialist Registrar. Action Medical Research Department of Medical Genetics, University of Cambridge 2003-2007