Human Genome Research Project

Clinical Genetics

• Head of Unit
• Summary of Research

See also: Clinical Genetics in the hospital's Directory of Services.

Head of Unit

Summary of Research

Clinicians from our group head formal research groups within the WSGP - see Marfan Research Group (Dr Lesley Ades), Eye and Developmental Genetics Research Unit (Dr Robyn Jamieson) and Academic Department of Medical Genetics (Professor David Sillence) for details. Medical and counselling staff collaborate in additional clinical research related to other areas of interest. Projects in 2004-2005 included:

1. An investigation of the behavioural and cognitive phenotype of Mowat-Wilson Syndrome: Dr Meredith Wilson co-investigator, with Dr David Mowat [SCH/UNSW], PhD student Liz Evans and chief investigator A/Prof Stewart Einfeld [School of Psychiatry, UNSW].
2. NIH/NHGRI Smith-Magenis Natural History study: Drs Meredith Wilson, Felicity Collins and David Dossetor [Department of Psychological Medicine] co-investigators with Dr Ann Smith [chief investigator, NIH]
3. Velocardiofacial Syndrome Social-Cognitive Study: Dr Meredith Wilson co-investigator, with Dr Belinda Barton and Dr Neil Nicholl [CHERI] and Dr David Dossetor [Department of Psychological Medicine]
4. A Clinical and Molecular Genetic Study of Oligodontia in 3 Australian families: Dr Meredith Wilson co-supervisor of Dr Michael Malandris (MDSc thesis completed 2004), with A/Prof Richard Widmer [Department of Dentistry], Prof John Christodoulou and Dr Bruce Bennetts [WSGP]
5. Clinical, biochemical and genetic delineation of a new type 2x congenital disorder of glycosylation: Dr Meredith Wilson with Prof Jaak Jaeken [Centre for Metabolic Diseases and Nutrition, Leuven, Belgium] and Dr Robyn Jamieson [Eye and Developmental Genetics Research Unit]
6. Genetic mapping of autosomal dominant urogenital dysplasia in an Australian family : Dr Meredith Wilson with Prof Klaus Zerres and Dr Carsten Bergmann [Institute of Human Genetics, Technical University of Aachen, Germany]
7. Velopharyngeal insufficiency in neurofibromatosis type 1: Dr Mimi Berman (fellow in genetics) and Dr Meredith Wilson (supervisor) with co-investigators Prof Kathryn North [Neurogenetics Research] and Mr David Fitzsimons [Cleft Palate Clinic]; successful grant application to US Army NF1 Research to fund concept study