Professor Diana Baralle BSc, MBBS, MD, FRCP

Professor of Genomic Medicine and Consultant in Clinical Genetics

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As a Professor of Genomic Medicine and Clinical Geneticist, my research spans both clinical phenotyping, diagnostics 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 particularly working in collaboration with the 100,000 genome project is an exciting opportunity at the University of Southampton.  My laboratory takes this further by studying the molecular mechanisms in pre mRNA splicing which will help us understand how genes work and therefore how we can modify them for therapy.

Dr Diana Baralle was appointed a Hefce Senior Clinical Lecturer in 2011. 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 splicing in genetic disease with particular interest in how in the mechanism of splicing is affected by gene mutations, what this teaches us about the complex mechanism and role of splicing, diagnostic testing and ultimately how this can be altered to prevent or alter disease. Complimentary to this are her other research interests which include genetic diagnostic testing, in particular RNA testing and the 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 Academic Unit. 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 outreach clinics to Salisbury and Winchester 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

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

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

Specialist Registrar. Clinical Genetics. Addenbrooke’s Hospital, Cambridge. 1998-2002

Specialist Registrar. Clinical Genetics and Dysmorphology, Great Ormond Street Hospital, London. 1997-1998.

Senior House Officer. Paediatrics (General Paediatrics, Community Paediatrics, Neonatology, Dermatology, Gastroenterology, Endocrinology, Rheumatology) Great Ormond Street Children's Hospital and University College Hospital, London. 1994-1997.

House Officer. General Surgery and E.N.T, Wycombe General Hospital, Wycombe.

House Officer. General/Metabolic Medicine and Diabetes. University College and Middlesex Hospitals, London. 1993-1994.