• June 4, 2020

Rare Diseases Functional Genomics

The Rare Diseases Functional Genomics (RDFG) program is a joint endeavour of Kids Research, Sydney Children’s Hospitals Network and Children’s Medical Research Institute. The RDFG program aims to empower the diagnosis and treatment of genetic disorders, including the rare and difficult to diagnose and to discover how genetic variants contribute to disease, with the ultimate goal of early curative treatment or disease prevention.

The RDFG program provides support to reach a molecular diagnosis of a genetic disorder by undertaking functional studies of variants of uncertain significance and triage of cases of significant clinical and scientific interest for in-depth functional genomics investigation.

The RDFG laboratory can perform studies such as Western blotting, immunocytochemistry, mRNA analysis and cell-based assays to determine pathogenicity of variants. For genes where the functional studies are beyond the scope of the RDFG laboratory, assistance may be sought from expert researchers, or the Stem Cell & Organoid Facility and related services at CMRI.

The RDFG team is proudly supported by Luminesce Alliance with the support of NSW Government to coordinate and integrate paediatric research.