About Professor Kathryn North
Kathryn North's work aims to identify genes associated with neuromuscular disorders and to conduct clinical studies and develop laboratory tools to determine the consequences of these gene changes and potential therapeutic options to make the lives of children with neuromuscular disorders better.
Professor Kathryn North is an internationally recognised research leader on the causes and consequences neurogenetics disorders, with particular expertise in the diagnosis of inherited rare neuromuscular conditions.
Professor North is trained as a paediatric physician (F.R.A.C.P), neurologist (A.A.N.) and clinical geneticist (H.G.S.A.) and in 1994, was awarded an M.D. for research into NF1. In 1993, she commenced a postdoctoral fellowship at the Children’s Hospital, Boston and Harvard University, and here developed expertise in the molecular genetics of human skeletal muscle. In 1995, she returned to Sydney as the first recipient of the Career Development Award in Research from the Children’s Hospital at Westmead, and established the Neurogenetics Research Unit in 1996. In 1997, she was appointed as Senior Lecturer at the University of Sydney, and was promoted to Associate Professor in 2000, and Professor in 2002. In 2004 she was appointed Douglas Burrows Professor of Paediatrics and Child Health. In 2000, she received the Sunderland Award from the Australian Neuroscience Society. She has published 100 refereed journal articles, 10 invited reviews, 18 book chapters and one single author book. In the past two years, she has written 12 invited chapters on congenital myopathies and muscular dystrophies in U.S. based texts – including Myology, the two volume “bible” of muscle disease. In 2006, three of her PhD students won prizes for best oral presentation at international conferences (International Congress of Neuromuscular Disorders in Turkey (Ana Domazetovska: nemaline myopathy), International Congress of Human Genetics in Australia (Daniel Macarthur: α-actinin-3) and World Muscle Society (Nigel Clarke: congenital fibre type disproportion). Prof North’s research into the role of ACTN3 in human muscle performance has been the focus of three invited reviews and a book chapter (Yang et al. ACTN3 genotype is associated with human elite athletic performance. American Journal of Human Genetics 2003, 73:627-630) and was cited by Discovery Magazine in January 2004 as one of the “Top 100 Science Stories of 2003” – ranked number 76. Professor North was a founding member of the ENMC International Consortium on Nemaline Myopathy and was elected to the Executive Board of the World Muscle Society (2001-2004). She is on the Editorial Board of six international neurology and neuromuscular journals. She has given 42 invited presentations in the past six years – 33 of these at International Conferences, and has acted as session convenor and chairman at two Cold Spring Harbor Laboratory conferences, the International Neuromuscular Congress (1998, 2002 and 2006), and meetings of the World Muscle Society (2000, 2002, 2004), and at annual meetings of the Australian Association of Neurologists and the Human Genetics Society of Australasia. Professor North has served on the NHMRC Discipline panels (both Genetics and Neuroscience) and the Career Development Award Panel in 2005. She was Chairman of the Scientific Program Committee of the Human Genetics Society of Australasia from 2003-2006.