Clinical Genetics Research

Staff of the Department of Clinical Genetics are involved in clinical research to understand the genetic basis of rare Mendelian disorders in consanguineous families, neuromuscular diseases, vertebral malformations and other skeletal dysplasias. We are also involved in clinical trials of novel pharmacological therapies.

One of the rare genetic disorders we research is Marfan Syndrome, a heritable disorder of the connective tissues that can affect many organs and tissues of the body, including the musculoskeletal system, heart and vision. 

We work in collaboration with researchers within The Children’s Hospital at Westmead and externally, including the NSW Biochemical Genetics Service, NSW Newborn Screening Program and Sydney Genome Diagnostics.

The aim of our research is to provide accurate diagnosis of complex genetic diseases, and  allow prognosis and recurrence risk information to be provided to families. Ultimately, our goal is to translate our research findings  into delivery of new therapeutics to patients with rare genetic diseases.