Neurogenetic disorders - gene discovery, functional genomics, therapies, diagnostics and prevention

Abstract

Professor Nigel Laing was born in Scotland and obtained both his BSc (Hons) in Pharmacology (1976) and PhD in Physiology (1979) from the University of Edinburgh. He spent one year as a Post-doc at the University of Oslo (1980) before coming to The University of Western Australia in January 1981.His PhD and early career research was as a developmental neurobiologist investigating how motor neurons and muscles interact and determine each other's properties in the developing embryo. For a 12-month period July 1987 to June 1988 Professor Laing re-trained in molecular genetics with Professor Teepu Siddique in Professor Allen Roses' Laboratory at Duke University North Carolina.Returning to Western Australia in 1988, Professor Laing had the two tasks of developing molecular neurogenetic research and molecular neurogenetic diagnostics at The Australian Neuromuscular Research Institute and Royal Perth Hospital respectively. Professor Laing successfully investigated Australian families with mostly dominantly inherited diseases, playing a role in identifying mutations in SOD1 as a cause of familial motor neuron disease, mutations in tropomyosin as the first known cause of nemaline myopathy, mutations in actin as a major cause of severe congenital myopathies of various types and mutations in myosin as the cause of ""Laing"" myopathy.Professor Laing continues to hunt human disease genes, while now working towards developing possible treatments for some of the diseases he has identified.Dr Gianina Ravenscroft is a NHMRC Career Development Fellow at the Harry Perkins Institute of Medical Research and the University of Western Australia. She did her PhD with Professor Laing and Dr Kristen Nowak at the University of Western Australia after an Honours majoring in muscle physiology. Her current research focuses on identifying novel human disease genes for severe, frequently fatal, neuromuscular diseases. She also combines her undergraduate training in physiology with genetics to investigate disease mechanisms, which is a crucial step towards developing treatments, where applicable.