Success stories

SEALSPOWGenomicsteamUsing genomics to diagnose and treat rare disorders

Our pathologists and scientists are helping diagnose rare genetic disorders in children and adults with the aim of providing better management for inherited conditions.

Our Randwick lab is NATA accredited to provide whole ‘exome’ sequencing – a process that sequences (or reads) all of the 20-30,000 genes in a person’s genome in a single assay). So far ‘exomes’ for more than 40 families have been analysed through the lab, resulting in the diagnosis of 18 children with epilepsy, 19 children with an intellectual disability and four children with immunodeficiency.   Prior to this work the families had no diagnosis for the ailments affecting their children. Now they can seek treatment and support they need. 

We offer community-based genetic screening for couples who may be at risk of carrying hereditary disorders such as Tay-Sachs disease, Canavan disease, Riley-Day syndrome, Bloom syndrome and Niemann Pick disease type A.

We’re working with the Sydney Children’s Hospital Network and the Garvan Institute on a research project to identify changes using whole genome sequencing which reads not only the genes but the regions in between genes that can regulate genes.

Visit here for more information on our work in genomics.

Other success stories