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Diagnosing neurological disorders

Home Research we’re supporting 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.

Lead investigator

Professor Nigel Laing

Harry Perkins Institute of Medical Research

Contact

TBC


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Victoria 3052 Australia

In the spirit of reconciliation Australian Genomics acknowledges the Traditional Custodians of country throughout Australia and their connections to land, sea and community. We pay our respect to their elders past and present and extend that respect to all Aboriginal and Torres Strait Islander peoples today.

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