A/Professor Diane Fatkin
	MD, BSc(Med), FRACP
	Adjunct Associate Professor
	Mailing Address:	Victor Chang Cardiac Research Institute Level 6, 384 Victoria St, Darlinghurst NSW 2010
	Phone:	61 2 9295 8518
	Fax:	61 2 9295 8501
	Email:	d.fatkin@victorchang.unsw.edu.au

 Research Description:

Over the past decade, inherited gene defects have been recognised to be an important cause of heart muscle diseases. The genes involved, and the mechanisms by which gene defects cause these disorders are not well understood. The major focus of research performed in the Sr Bernice Research Program in Inherited Heart Diseases is the identification of genes that cause disturbances of the heart’s contraction and rhythm, and elucidation of gene function. We perform these studies by analysis of DNA from blood samples obtained from affected individuals with a family history of cardiomyopathy and/or arrhythmias (including atrial fibrillation, sinus bradycardia, and atrioventricular conduction block). In large families, we can perform genetic linkage analyses, while in small families, we perform mutation screening in selected candidate genes. We are also using genetically-engineered mouse models and cell culture techniques to find out how gene mutations cause disease. Ultimately, we hope our studies will lead to new ways of diagnosing and treating patients with heart failure and cardiac arrhythmias.

Selected Publications:

Professional Activities:

A/Professor Fatkin is head of the Sr Bernice Research Program in Inherited Heart Diseases in the Molecular Cardiology Program at the Victor Chang Cardiac Research Institute (VCCRI), and holds appointments as an Honorary Medical Officer in the Cardiology Department of St Vincent’s Hospital, Darlinghurst, and in the Faculties of Medicine and Science at the University of New South Wales. She is a member of the Cardiovascular Genetics Working Group of the Cardiac Society of Australia and New Zealand, and the Basic Cardiovascular Sciences Council of the American Heart Association.

Victor Chang Cardiac Research Institute Website