Research area: Clinical Sciences > Neurodisability and Rehabilitation

Overview

Each year almost eight million children, or about six per cent of births worldwide, are born with a serious genetic birth defect. The genetic cause of these defects remains unknown in at least half of these children.

Since its establishment in 2008, the Accelerated Gene Identification Program has worked to understand the cause of these genetic conditions by using new genetic and molecular testing technologies. This research allows us to facilitate quicker diagnosis and more extensive genetic counselling for families with rare genetic conditions and provide a pathway to precision medicine and novel treatments.

The Accelerated Gene Identification Program is run by a team of clinicians, researchers, biostatisticians and genetic counsellors, based at Murdoch Children's Research Institute, Victorian Clinical Genetics Services (VCGS), The Royal Children's Hospital, and the Walter & Eliza Hall Institute of Medical Research. The University of Melbourne is also a key collaborator of the project.

A specific focus of the Accelerated Gene Identification Program is on genetic causes of brain malformations.

To date, the project has led to the discovery of more than 30 new disease genes.

Research team

Funding

We are funded through the National Health and Medical Research Council (NHMRC) and various philanthropic organisations.