The Neuromuscular Gene Discovery group explores the genetic basis of inherited disorders that affect the function and structure of skeletal muscle and nerves.

This large group of disorders, many of which are life-limiting, can have devastating consequences for children resulting in the loss of the ability to walk or perform daily living activities.

In collaboration with the Broad Institute of Harvard and the Massachusetts Institute of Technology (MIT), the Neuromuscular Gene Discovery group harnesses new technologies in next generation sequencing to identify the genetic changes causing disease. So far, the collaboration has yielded positive results for around 150 families for whom previous cutting-edge diagnostics could not, and each year more requests are received for diagnostic evaluation.

Identifying the genetic basis of disease in a child is the single most important step to accurately guide clinical care, to predict and prevent likely associated complications. A specific genetic diagnosis also provides important information to assist in disease prevention through carrier testing and prenatal and pre-implantation diagnosis. A genetic diagnosis is also increasingly necessary for eligibility to participate in clinical trials of new therapeutic agents.

Additionally, identifying new disease genes, and specific clinical or histological signs linked to this disease gene can have far-reaching effects across the world for many other families with similar clinical and genetic presentations.

The group is led by Prof. Sandra Cooper and is a multidisciplinary team of Clinical and Medical Scientists.

The group collaborates closely with Broad Institute research team led by A/Prof Daniel MacArthur and with the Lek Lab, led by Dr Monkol Lek at Yale School of Medicine.