Skip to main content

Neuromuscular Gene Discovery Group

Neuromuscular Gene Discovery Group


The diverse aspects of my multi-disciplinary research program feed one main goal: Identify the genetic basis and mechanism of disease in children affected with rare neurological disorders and inform evidence-based therapeutic interventions.”

Professor Sandra Cooper
Head of Neuromuscular Gene Discovery Group

Professor Cooper conducts a program of research spanning fundamental neuroscience, neuromuscular disease mechanisms and genomic medicine.

In Professor Cooper’s role as Adjunct Research Scientist – Functional Neuromics, her research addresses the diagnosis and fundamental mechanisms of rare genetic diseases, by identifying novel diseases genes and novel classes of pathogenic variants especially those caused by abnormalities of RNA splicing, and by investigating fundamental biological mechanisms such as stress response pathways.

Her research vision: To translate latest technological innovations in genomic medicine into genetic answers for families with rare disorders.

A molecular diagnosis is the crucial turning point for individuals and families affected by genetic rare disorders. It enables precision medicine tailored to anticipate and prevent complications associated with the patient’s specific disease, allows genetic counselling for the wider family unit, and informs family planning to help diminish anxiety regarding disease recurrence. In some instances, a genetic diagnosis can highlight the clinical utility of an available treatment.

Over the last 5 years, Prof Cooper's genomics research has provided genetic answers for > 300 families who remained undiagnosed by current genomic diagnostics – identifying novel disease genes and novel classes of pathogenic variants. 

Her current major focus lies in health services implementation of RNA Diagnostics. Since 2019, Prof Cooper has led SpliceACORD, the Australian Consortium for RNA Diagnostics with the vision to devise an evidence-based national strategy to bring RNA diagnostics into clinical practice.

The Neuromuscular Gene Discovery Group is part of the Kids Neuroscience Centre at the Children’s Hospital at Westmead (CHW), where Prof Sandra Cooper is Deputy Director, and which comprises a large multidisciplinary team devoted to identifying the causes, consequences, and therapies for patients with inherited neuromuscular disorders. 

The Neuromuscular Gene Discovery Group within Kids Neuroscience is led by Prof Cooper and is focused on gene discovery and genomics. 

She also leads the Disease Mechanisms and Therapies group focused on elucidating the mechanism of disease with a view to developing evidence-based therapies.