Gene Discovery

Group Leader: Associate Professor Sandra Cooper

Neuromuscular disorders encompass a large group of inherited disorders that cause abnormalities in the structure and function of our skeletal muscle or nerves. These disorders can have devastating consequences for affected children, often resulting in the loss of the ability to walk or perform activities of daily living, and many are life-limiting.  Sadly for many patients, the genetic basis of their disease is unknown.

The Gene Discovery program was initiated and developed to identify the genetic changes causing disease for our families under the leadership of the late A/Prof Nigel Clarke and current group leader A/Prof Sandra Cooper. Under this program, the INMR in collaboration with The Broad Institute at Harvard are harnessing the newest technologies in next generation sequencing to sequence the DNA of hundreds of patients and family members and identify a diagnosis for ~50% of our previously unsolved families.

A genetic diagnosis has an enormous impact for affect patients and their families, guiding patient management, prognosis and recurrence risk, disease prevention through prenatal and pre-implantation diagnosis, and is increasingly necessary for eligibility to participate in clinical trials of new therapeutic agents.

Current projects include:

  • Identifying disease genes for neurogenetic disorders using next generation sequencing
  • Analysis of a newly identified type of spinal muscular atrophy
  • Diagnosis and treatment of inherited muscle disorders