Diagnosing neurological disorders

Inherited brain, spinal cord or nerve diseases are chronically disabling and worsen over a patient’s life. They severely affect quality of life and the need for medical and non-medical support. The situation is made worse because many families remain genetically undiagnosed even after all known causes are tested. For patients and clinicians worldwide this is a critical setback.

This project will identify new causes of these diseases to provide diagnoses to these patients and improve their health and welfare. It will combine whole genome sequencing, to analyse both coding and non-coding regions of the genome, with new bioinformatic tools, and long-read sequencing to discover new short tandem repeat expansions (STRs) and structural variants in the large number of genetically unsolved neurological patients in our unique clinical cohorts. The project design allows immediate implementation of findings into associated diagnostic laboratories to increase the diagnostic percentages for these diseases in Australia.