Rare disorder genomics

SEALSPOWGenomicsteamOur 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 a number of children with epilepsy, children with an intellectual disability and children with immunodeficiency.  Prior to this work, these families had no diagnosis for the ailments affecting their children. Now they can seek the 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.