Professor Edwin Kirk is both a clinical geneticist and a genetic pathologist, a rare combination. As a clinician, he sees patients at Sydney Children's Hospital, where he has worked for more than 20 years; his laboratory practice is in the New South Wales Health Pathology Genomics Laboratory at Randwick.
Kirk is a conjoint appointee in the School of Women's and Children's Health at the University of New South Wales, an experienced medical educator, and currently Chief Examiner in Genetics for the Royal College of Pathologists of Australasia. He is also a respected researcher, working in the fields of cardiac genetics, metabolic diseases, and intellectual disability, as well as studying reproductive carrier screening, and is a co-author of more than 100 publications in scientific journals, which have been cited by other researchers more than 4,000 times. He is one of the co-leads and public faces of the $20 million Mackenzie's Mission carrier screening project.
Kirk lives in Sydney with his wife and three children. In his spare time, he competes in ocean swimming races, slowly, and plays the saxophone, loudly.
Broad Research Areas
Cardiology and Vascular Disease
Psychological Impact of Genetic Disease
Genetics - Genome Analysis
Paediatrics / Child Health
Specific Research Keywords
Atrial Septal Defect
Society Memberships & Professional Activities
Member of HGSA, ASIEM, ASHG, AMA.
Fellow of Royal Australasian College of Physicians.
Director of Paediatric Physician Training, GESCHN
Adolph Basser Trust
Malcolm Alan Burgess and Julia Burgess Trust
Congenital heart disease (CHD) is my main research focus. There is a major genetic contribution to CHD, and my research encompasses both rare Mendelian and common non-Mendelian forms. Past approaches to gene identification have included classical mapping studies both in humans and in a mouse model, as well as candidate gene approaches. Recent and planned future studies ahve employed the power of modern genomic technologies with sequencing of the exome (all coding sequences in the genome). Concurrently, I have been involved with studies of the psychological impact of CHD on families. Other interests include chromosomal disorders and the genetics of facial clefting.
All areas of clinical genetics, taught at medical student and postgraduate
levels. Physician education in general