Professor Kathryn North leaps ahead in the diagnosis of muscular dystrophy

Diagnosis and etiology of congenital muscular dystrophy

Medical Foundation Fellow, Professor Kathryn North, has been published in the prestigious journal Neurology for her research into the diagnosis and aetiology of congenital muscular dystrophy.

Positioned as the journal's lead article and featured in the highlights section, Diagnosis and etiology of congenital muscular dystrophy was the subject of editorial praise which stated, "The authors highlight the importance of a combined approach of thorough clinical examination followed by a targeted biochemical and molecular analysis. This method results in clearer diagnostic outcomes. The value of the new study from Dr. North’s laboratory will be realized as their methods are further refined and become more widely applied; identification, detailed characterization, and accurate diagnosis of more cases will inevitably enhance our understanding and ultimately the treatment of these devastating diseases."

The article highlights how Professor North developed novel diagnostic techniques aimed at improving diagnostic accuracy and reducing the amount of tissue required to make a specific genetic diagnosis. This accurate genetic diagnosis is essential for guiding management, predicting prognosis and recurrence risk, and for prevention of the disease through prenatal diagnosis. Accurate diagnosis is also necessary for guiding appropriate therapy and eligibility for clinical trials of new therapeutic agents. Ten years ago, 10% of disorders could be diagnosed, now over 50% of patients whose tissue is sent to Professor North’s laboratory from around Australia and through-out SE Asia can be accurately diagnosed.

Professor Kathryn North is Head of the Institute for Neuromuscular Research, and Head of Paediatrics and Child Health at the Children's Hospital at Westmead, as well as the Medical Foundation Douglas Burrows Professor of Paediatrics and Child Health which includes a grant of $750k over six years.