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The University of Southampton

Emeritus Professor David Wilson BA, MBBS, PhD

Professor of Human Developmental Genetics

Emeritus Professor David Wilson's photo

Professor David Wilson is an Emeritus Professor of Human Developmental Genetics within Medicine at the University of Southampton.

Professor Wilson was appointed to the Chair of Human Developmental Genetics in 2000. He completed general professional training in internal medicine and paediatrics before specialist training in Clinical Genetics.

His PhD, that included a period of time in the University of Amsterdam, investigated DiGeorge Syndrome and helped identify the significance of 22q11 deletions and define the phenotype. This established an interest in human embryonic development and in particular cardiogenesis.

Professor Wilson leads a group that investigates human embryonic development: current projects include the genetic basis for congenital heart disease, cardiac progenitor stem cells and the role of ALMS1 in the pathogenesis of the Alstroms syndrome phenotype.

In Southampton, he has been Divisional Director of Human Genetics, Deputy Director of Research (Faculty of Medicine) and co-founded the Centre for Human Development, Stem Cells and Regeneration. He helped establish the University of Southampton 4 year Integrated PhD programme in Stem Cells and is currently Associate Director of Internationalisation  (Faculty of Medicine).


BA, Physiology, University of Oxford 1981
MB.BS, Medicine and Surgery, University of Newcastle, 1984
PhD, University of Newcastle, 1995

Appointments held

MRC Clinician Scientist, University of Newcastle, 1994-1998

Senior Lecturer, Medical Genetics, University of Newcastle, 1998-2000

Professor of Human Developmental Genetics, University of Southampton. 2000- present

Research interests

Professor Wilson’s group work within the Centre for Human Development, Stem Cells and Regeneration, and investigates the molecular genetic and cellular events during embryogenesis and the fetal period with a focus on cardiac development and cardiac genetics.

Cardiac Development, Congenital Heart Disease and Stem Cells

The group is interested in the development of the structure of the heart during normal development and the genes that control this process. This is investigated with access to human embryonic and fetal tissues which is considered necessary and extremely important given that although there are similarities between mammalian species, there are also differences. Ultimately the group is trying to establish the causes of malformations in humans.

Potential students, post-doctoral scientists or clinician scientists who are interested in joining the group are encouraged to contact Professor Wilson.

1. Hypoplastic left heart syndrome

Professor Wilson’s group has a programme of research that investigates why children are born with a cardiac defect and in particular whether some families or individuals have a genetic predisposition. The research has focused on stenosis or obstruction of the left side of the heart and in particular hypoplastic left heart syndrome.

Hypoplastic left heart syndrome (HLH) is a very severe, life-threatening, cardiac defect. There is evidence to suggest that in some individuals, there is a genetic predisposition; the group is trying to identify the predisposing genes.

With the cooperation and help of many families, several approaches are used to determine which are the important genes for HLH. This includes microarray CGH, mapping balanced chromosome translocation breakpoints, candidate gene selection and linkage analysis of larger families.

2. ALMS1 and Alström syndrome

The group are investigating ALMS1 and its role in Alström syndrome. The Southampton group cloned ALMS1 and demonstrated that mutations within this gene were the cause Alström syndrome. We showed that ALMS1 localises to basal bodies and centrioles within cells which predicts that Alström syndrome may be a “ciliopathy”, such that the phenotype results from abnormal function of the primary cilium of a cell.

ALMS1 dysfunction causes a phenotype that includes insulin resistance, type II diabetes mellitus, dilated cardiomyopathy, cone-rod retinal dystrophy, liver and kidney failure. The mechanisms by which these may occur are being investigated.

 3. Fetal Cardiac Progenitor Cells and Cardiomyocyte Culture

A model culture system of human primary cardiomyocytes has been developed which is being used this as a tool to investigate cardiac lineage differentiation from pluripotent germ cells and a cellular model for cardiotoxicity screening of novel compounds.


Human fetal heart ~ 10 weeks
Human fetal heart ~ 10 weeks
Cellular localisation of ALMS1 (FITC-green) and MF20 (texas red) in human cardiomyocytes
Cellular localisation of ALMS1
Cultured human cardiomyocyte
Cultured human cardiomyocyte

Research group

Human Development and Health

Affiliate research group

Human Development and Physiology

Postgraduate student supervision

2000 Neil Hanley PhD
2001 Elizabeth Jones PhD
2002 Helen Phillips PhD
2003 Karen Piper PhD
2004 David Fowler PhD
2005 Glenn Renforth PhD
2006 Helen Cox DM
2007 Jonathan Trickett DM
2008 Binoy Skaria DM
2009 Becky Perret PhD*
2010 Dan Asby PhD*
2012 Laura Roncoroni PhD*
2014 Claudia Tammaro PhD*
2015 Vinay Saunders PhD
2015 Catherine Mercer PhD


Jenny Dewing PhD
Paola Barragan PhD
(* 2nd supervisor)

Faculty of Medicine

Associate Dean for Internationalisation

Personal Tutor BM4, BM5 and BM6 students

BM5. Delivers lectures to years 1 and 2 that presents genetics aspects of disease and puts into clinical context the principles and concepts of molecular genetic science.

B Med Sci. Supervisor for laboratory based projects in molecular cell biology that investigate human embryonic development.

BSc Biomedical Science. Delivers lectures on molecular pathology.

M Med Sci. Delivers lectures on molecular pathology and Supervisor for laboratory based projects in molecular cell biology that investigate human embryonic development.

PhD. Supervisor.

PhD 4 yr Integrated Programme (Stem Cell Pathway). Delivers lectures in specialist modules.

Emeritus Professor David Wilson
Centre for Human Development Stem Cells and Regeneration Human Genetics The Duthie Building (MP 808) Southampton General Hospital Tremona Road Southampton SO16 6YD Email:

Room Number : SGH/Duthie Building

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