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The University of Southampton

Professor Diana Baralle BSc, MBBS, MD, FRCP

Professor of Genomic Medicine and Consultant in Clinical Genetics

Professor Diana Baralle's photo

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 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 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


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.

Research interests

The role of RNA processing defects in genetic disease
Diagnostic testing and RNA
Comprehensive research network (CRN) Genetics
The role of RNA processing defects in genetic disease

Abnormalities of pre-mRNA splicing represent an important mechanism by which gene mutations cause disease. In addition 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.

We use various techniques including minigene assays to analyse the effects on splicing of sequence variations in different diseases, and exploit human pathology to investigate new modulatory elements of splicing.

BRCA1 splicing

This project aims to identify cis and trans acting elements playing a key role in the alternative splicing regulation of the predominant BRCA1 isoforms. Clarifying the splicing regulatory network that controls BRCA1 expression will be fundamental for full comprehension of its role in human cancer and, in particular, for understanding the tissue specific tumorigenesis associated with BRCA1. In addition, knowing which gene sequences are susceptible to aberrant splicing mutations will be useful in the diagnosis of the disease.

We use the data obtained to allow us to develop specific synthetic oligonucleotides for modification of the BRCA1 splicing pattern in vivo. As BRCA1 splicing isoforms play a critical role in the development and control of mammary and ovarian cancer, we believe that manipulation of this mechanism will help to prevent and treat these diseases more effectively. Modified oligonucleotides that modulate splicing are now recognised as having great potential as therapeutic reagents. Developing these reagents as potential cancer therapies could pioneer numerous applications in the field.

Splicing evolution and brain size- Nde1

The NDE1 gene is now known to be a significant factor in the development of the human brain and mutations in this gene cause severe microcephaly and substantially decreased neuronal numbers. The mouse homolog is less severely affected and the gene differs in its use of a different terminal exon. Dr Baralle is using this interesting difference to study the evolution of the genetic control of the growth of the cerebral cortex.

Diagnostic testing and unclassified sequence variants

Clinical practice has only recently begun to incorporate analysis for mutations causing aberrant splicing. Some base changes at the DNA level currently viewed as unclassified variants or missense mutations may influence RNA splicing and need further investigation. We work on how this can be used in a clinical setting including interpretation of genomic data and therefore improve a molecular diagnostic. Service. Dr Baralle is a member of the ENIGMA (Evidence-based Network for the Interpretation of Germline Mutant Alleles) consortium.

Other genes and splicing

Dr Baralles group has many other smaller projects looking at interesting gene faults affecting splicing (e.g. SRNPN, MLH1, BRCA2, NF1). Research of these cases can be fruitful in terms of leading to new knowledge about the complex splicing mechanism, including new splice factors or previously unrecognised interactions. We are happy to receive and consider for study any other gene variant not associated with our main projects.


Through her Clinical genetics practice and collaboration both nationally and Internationally Dr Baralle investigates the cause and phenotype in dysmorphic syndromes. Current projects include investigation of the genes ZC4H2, PURA, DDX3X and a nystagmus DDD complementary analysis project.

CRN Genetics

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

Research group

Human Development and Health

Affiliate research group

Human development and physiology Research group

Postgraduate student supervision


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


University of Southampton


Patron of the Southampton Academic Society (SAS).
Member of the Faculty of Medicine international and enterprise (FINE) committee.
OSCE examiner.
CLRN Clinical specialty lead for Genetics Wessex.


National and International responsibilities

Panel member: 2009-2013 NHS National Institute Health Research, Health Technology Assessment programme- Diagnostic technologies and screening panel.
Faculty member PhD course in the doctorate program Genetics molecular and cellular Biology, University of Pavia, Italy.
Faculty member, Speaker and Treasurer Health through Education.
Faculty member, Speaker and Treasurer Health through Education.
Scientific Committee member for the British Society of Genetic Medicine (BSGM).
Treasurer for the National Clinical Genetics Society (CGS).

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Book Chapter

  • Varvagiannis, K., Vissers, L. E. L. M., Baralle, D., & de Vries, B. B. A. (2017). TRIO-Related Intellectual Disability. In R. A. Pagon, M. P. Adam, H. H. Ardinger, S. E. Wallace, A. Amemiya, L. J. H. Bean, T. D. Bird, N. Ledbetter, H. C. Mefford, R. J. H. Smith, ... K. Stephens (Eds.), GeneReviews [Internet] (GeneReviews). University of Washington.


Regular lectures for UG and PG courses.

Organiser and speaker for workshops for Splicing in diagnostic testing and therapeutics, London, Paris, RSM.

Clinical Genetics and Dysmorphology.

Faculty member PhD course in the doctorate program Genetics molecular and cellular Biology, University of Pavia, Italy.

Faculty member, Speaker and Treasurer Health through Education.

PhD and MD examiner


BM4 and BM5 tutor.

Final BM examiner.



Professor Diana Baralle
Telephone: 023 8120 6162 Fax: 023 8120 4346 E-mail:

Room Number: SGH

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