Neurogenetics Research Unit and the Institute for Neuromuscular Research

Professor Kathryn North
Associate Dean, Head of the Discipline of Paediatrics and Child Health
Head, Neurogenetics Research Unit
Deputy Head, Institute for Neuromuscular Research
Email: kathryN@chw.edu.au

Professor Robert Ouvrier
Petre Foundation Professor of Paediatric Neurology
Head, Institute for Neuromuscular Research

See also: The Institute for Neuromuscular Research website, Hospitals Directory of Bandaged Bear Clinics and Outpatient Services

The Neurogenetics Research Unit and The Institute for Neuromuscular Research were established to study inherited neurological diseases such as the muscular dystrophies and staff work closely with the doctors and therapists of the Neurogenetics Clinics.

Neuromuscular disorders constitute one of the major causes of ongoing disability in childhood. Children with neuromuscular disorders have significant and worsening disabilities; many children are unable to walk and, in severe cases, the weakness impairs the muscles of breathing resulting in death at an early age. As the cause is often genetic, many members of one family can be affected.

The aims of our research are to;

1. Identify the causes of neuromuscular diseases. This is an important function of the Unit because once a genetic cause is identified many families can be offered counselling and prenatal diagnosis.
2. Understand the mechanism of the dysfunction, which can assist us in the future to develop effective therapies, and
3. Develop therapies to alleviate the physical disabilities these children have.

The Neurogenetics Research Unit and The Institute for Neuromuscular Research now have five teams working on various aspects of skeletal and cardiac muscle structure, function, disease and therapies.

• Actinins and skeletal muscle performance team
• Cardiac Research Group
• Clinical therapies research team
• Congenital myopathies and muscular dystrophies team
• Dysferlin and the membrane repair team

The Neurogenetics Research Unit also conducts a program investigating clinical consequences for children with Neurofibromatosis type 1.

For information about the Neurogenetics Research Unit and The Institute for Neuromuscular Research please contact Michelle Moeskops via email or telephone 9845 1905.

Student opportunities for 2005