Rare Diseases Functional Genomics

The Rare Diseases Functional Genomics (RDFG) program is a joint endeavour of Kids Research, Sydney Children’s Hospital 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 of disease-causing mechanism to posit therapy or preclinical modelling of treatment paradigm. 

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, a non for profit cooperative joint venture established with the support of NSW Government to coordinate and integrate paediatric research.

The Research Team

Dr Lisa Riley, Laboratory Head


Lisa is a Senior Research Officer with over 20 years of experience in functional genomics. Lisa and her team can provide advice on suitable functional assays for your gene of interest, execute the assays, and supply a research report. We also assist with preparation of publications arising from these projects.

  • Darshan Parekh, Senior Research Assistant 
  • Aram Niaz, Research Assistant

Project can be submitted via the submission portal here. 

Key Publications

Briere LC, Walker MA, High FA, Rogers CA, Callahan C, Cooper C, Ishimura R, Ichimura Y, Caruso PA, Nutan S, Brokamp E, Koziura ME, Mohammad SSDale RCRiley LG, Undiagnosed Diseases Network, Phillips JA, Komatsu M, Sweetser DA (2021) A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy. 2021 Apr 2;mcs.a005827. doi: 10.1101/mcs.a005827

Bustos F, Espejo-Serrano C, Segarra-Fas A, Toth R, Eaton AJ, Kernohan KD, Wilson MJRiley LG, Findlay GM (2021) A novel RLIM/RNF12 variant disrupts protein stability and function to cause severe Tonne-Kalscheuer syndrome. Sci Rep. 2021 May 5;11(1):9560. doi: 10.1038/s41598-021-88911-3

Riley LG, Rudinger-Thirion J, Frugier M, Wilson M, Luig M, Alahakoon TI, Nixon CY, Kirk EP, Roscioli T, Lunke S, Stark Z, Wierenga KJ, Palle S, Walsh M, Higgs E, Arbuckle S, Thirukeswaran S, Compton AG, Thorburn DR, Christodoulou J (2020) The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy. Hum Mutat.  41:1425-1434

Riley LGWaddell LB, Ghaoui R, Evesson FJ, Cummings BB, Bryen SJJoshi H, Wang MX,  Brammah S,  Kritharides L, Corbett A, MacArthur DG, Cooper ST (2019) Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin. Eur J Hum Genet. 27:1267-1273