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Professor Diana Baralle BSc, MBBS, MD, FRCP

Professor of Genomic Medicine and Consultant in Clinical Genetics

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Professor Baralle is Professor of Genomic Medicine and Associate Dean (Research) in the Faculty of Medicine at the University of Southampton.

She was also 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 research.

Professor Baralle’s leads a group that investigates the role of RNA and splicing in genetic disease, new methods for genetic diagnostic testing, and the causes of rare disease syndromes. She is clinical specialty lead for Genetics for the Wessex CRN. 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


Associate Dean Research 2021-present

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-present

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

Research interests

Translational genomics and transcriptomics

Through NIHR funding we investigate novel diagnostic RNA pathways, biomarkers, techniques and guidelines to maximise the clinical utility of genome sequencing.

One in seventeen people are born with or develop a rare disease during their lifetime and at least 80% of rare diseases have an identified genetic component; 50% of new cases are identified in children. One in three people will get cancer and genomics transforms pathology to find the right treatment to the right patient. Novel disease genes are being discovered at an unprecedented rate.

The in-depth study of RNA from patients is a powerful tool complementing traditional and novel genomics-based medical diagnostics. Crucially, RNA provides information missed by standard methods of analysis and increases diagnostic rate.

The role of RNA processing defects in genetic disease

Abnormalities of pre-mRNA splicing represent an important mechanism by which gene mutations cause disease. Genomic pathology data reveals that we still have much to learn about the basic mechanisms that underlie the complex and exciting pre-mRNA splicing process. To this end, we study a variety of disorders, augmenting our knowledge of splicing and ultimately look to develop potential future interventional genetic therapies.

Functional Genomics

With Dr Andrew Douglas and in collaboration with others we have set up a wide-ranging translational and clinically applied research group that seeks to utilise clinical, laboratory and publicly available data to better understand genetic disorders and to allow the more accurate diagnosis of patients affected by such conditions.  It is an overarching project that incorporates functional genomics, data analysis, laboratory investigations and experiments.


Through my Clinical genetics practice and collaboration both nationally and internationally I investigate the cause and phenotype in dysmorphic and rare disease syndromes. In particular, I have a special interest in the rare disorders: PURA syndrome and TRIO syndrome and work closely with the PURA patient foundation and their global research network. My group have contributed to the first descriptions of many syndromes.

Genomics England

I lead the Quantative Methods, Machine Learning and Functional Genomics (QMMLFG) genome clinical interpretation partnership for Genomics England. The GECIPS are research consortia working on improving the clinical application and interpretation of the data in the 100,000 Genomes.

COVID19 Research

During the SARS-CoV2 pandemic we have been working collaboration with infectious disease experts and using our RNA and transcriptomic knowledge to better understand the virus. We are looking at transcriptomes in affected patients and investigating signatures for response to infection.

CRN Genetics

As clinical specialty lead for Genetics in Wessex I lead a team that recruits to CRN studies. A list of the Genetics studies can be found on the BSGM and the NIHR websites. 



Human Development and Health

Affiliate Department(s)

Human Development and Physiology

Postgraduate student supervision

PG supervision of PhD and MD students.
Regular PG examiner.

University of Southampton

Deputy Head of School Research HDH
Human genetics and genomics theme lead, Human Development and Health
CRN Clinical specialty lead for Genetics.
Whistleblowing officer
University of Southampton external examiners committee

National and International responsibilities

Associate Dean Research, Faculty of Medicine
ENIGMA (Evidence-based Network for the Interpretation of Germline Mutant Alleles)  consortium member.
QMMLFG and RNA, splicing and transcriptomics Genome clinical interpretation partnership (GeCIP), Genomics England lead.
PURA syndrome foundation registry committee.
Associate editor Archives Diseases in Childhood, BMJ journals.
NIHR Integrated Academic Training national panel.
ACCEA South panel member, Department of Health.
NIHR Advanced Fellowship panel.


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  • Regular lectures for UG and PG courses.
  • PhD and MD examiner
  • BM4, BM5, BMIT and Masters tutor.
  • Final BM examiner.
Professor Diana Baralle
Telephone: 023 8120 8081
Fax: 023 8120 4346
PA Javier Garcia-Frutos Tel: +44 (0)23 8120 4264

Room Number: SGH/DB002/MP808

Facsimile:(023) 8120 4346

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