Professor Dian Donnai CBE

Professor of Medical Genetics

Consultant Clinical Geneticist, North West Regional Genetic Service

Research Group Lead for Medical Genetics

Clinical Head of Division, St Mary's Hospital, Central Manchester and Manchester Children's University Hospitals NHS Trust

Executive Director of Nowgen, a Centre for Genetics in Healthcare

President, Medical Sciences Section, British Association (for the Advancement of Science)

Dian's research is into the clinical manifestations and molecular pathways underlying syndromes that cause children to have structural malformations and learning disability. Her particular interest is in Williams syndrome, now known to be due to deletion of genes on chromosome 7, where affected individuals have a specific pattern of heart defects and cognitive development. Within the group Dr May Tassabehji, Wellcome Senior Fellow, leads the molecular research. Links between particular genes and clinical and behavioural features are being made and the group have discovered genes including members of the TF11-I gene family that are strongly suspected as having a role in early craniofacial development.

As Executive Director of Nowgen, a Centre for Genetics in Healthcare, Dian also leads a partnership project between the Universities of Manchester, Liverpool and Lancaster and the Central Manchester and Manchester Children’s University Hospitals NHS Trust. Nowgen is focussed on research into service delivery and development and into ethical and social aspects of genetics. It also has a strong educational and public engagement theme (including schools programmes) and is developing links with industry.

Dian also leads the UK arm of several pan-European projects focused on information resources for rare diseases (Orphanet) and is a PI for Dyscerne an EU-funded Network of Centres of Expertise for Dysmorphology.

Funding:

• Department of Health
• Department of Trade and Industry
• North West Development Agency
• European Regional Development Fund
• EU FP7
• EU DG Sanco

Undergraduate; contributor to Children and Families modules of MB.BS and SSMs

Postgraduate; Lecturere and supervisor for MSc in Genetic Counselling

Dian qualified in medicine in London and then trained in paediatrics and genetics. She is now Professor of Medical Genetics, Clinical Head of Division of St Mary's Hospital and Consultant in the North West Regional Genetic Service. The integrated Manchester University and NHS department of over 200 staff is one of the most comprehensive in the UK. 

Dian is a Fellow of the Academy of Medical Sciences. In 2004 she delivered the prestigious Carter Lecture to the British Society for Human Genetics and was awarded the Carter medal. Recognising the importance in the future of genetics in healthcare, she has a particular interest in public engagement; she is the President for 2007-8 of the Medical Sciences section of the British Association (for the Advancement of Science) and has led a Wellcome Trust funded initiative for the first Manchester Science Festival called 'Faces of Manchester'

Dian holds major funding from from the EU and a number of charities. She is Executive Director of Nowgen, A Centre for Genetics in Healthcare, formed following a successful bid to the DH for a Genetics Knowledge Park in 2003, and was awarded a further £3.5 million from the NWDA and ERDF to develop the Nowgen Centre; a focus for public engagement, education, service development and business interactions with genetics.

Dian’s research is in dysmorphology, the study of mechanisms underlying birth defects, and in health services research applied to genetics. Manchester has an international profile in dysmorphology; delegates from over 17 countries  attend the biennial Manchester Birth Defects Conferences.

Dian has been the Consultant Advisor in Genetics to the Chief Medical Officer and has been a member of a number of Government and DH committees including the Genetics and Insurance Committee and the Genetics Commissioning Advisory Group . She also serves on several national and international science funding bodies. She was appointed CBE for services to medicine in the 2005 New Year's Honours list.

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MBBS

Outside Manchester: Prof Segolene Ayme, Paris; Prof Han Brunner, Nijmegan; Prof Koen Devriendt, Leuven; Prof Kajewska-Walasek, Warsaw; Prof Nicole Philip, Marseille. Prof Judith Allanson, Ottawa.

In Manchester:

Dr May Tassabehji

Prof Jill Clayton-Smith

Prof Graeme Black

Dr Helen Middleton-Price