The identification and diagnosis of novel single-gene disorders is fundamental to the care of patients with rare disease, and is consistently identified as the single, largest contributor to improved diagnostic yields over time.
Professor Roscioli established a research program that aims to provide a molecular diagnosis for every child with Mendelian disease, using the data generated by diagnostic testing. The availability of a genetic diagnosis is important in and of itself by providing answers for parents who often have been on a diagnostic odyssey to find an answer for their child.
A rare disease diagnosis allows a framework in which to consider prognosis, develop specific management, intervention and treatment options, as well as access in some cases to clinical trials. Importantly, it also provides rationale for not performing unnecessary invasive tests or treatments. For parents, a molecular diagnosis provides a means to access reproductive technologies so they can complete their families with reduced risk of recurrence. A genetic diagnosis also allows access to NDIS support services and to community of parents and their shared experience of caring for a child with a rare disease.
Collaborator acknowledgements: The primary collaborative relationships have been with the following research and clinical groups:
- The scientific and medical staff of the Randwick Genomics laboratory, NSWHP
- Prof Hans van Bokhoven – Radboud University Nijmegen, the Netherlands.
- Prof Timothy Cox – University of Missouri Kansas City, USA
- Profs Jeff Murray and Andrew Lidral – University of Iowa, USA
- Profs Cox, Murray and Lidral are participants in the International Craniofacial Consortium group.
- Dr Michael Field, Genetics of Learning Disabilities, NSW Health
- Prof Deborah Schofield, Genomic Economics group, Macquarie University, Sydney
- Prof Robert Harvey, Physiological Genomics laboratory, University of Sunshine Coast Qld.