Primary organisation: Harry Perkins Institute of Medical Research
Principal Investigator: Professor Nigel Laing
Flagship requested: Neuromuscular disorders
Co-applicants: Dr Gianina Ravenscroft (University of Western Australia)
Approval date: March 2024
Applicant’s project summary:
The Perth Neurogenetic BioBank (PNB) builds on 30 years of research that has identified genetic causes for neurological and neuromuscular diseases in patients and families from across the globe. Despite recent advances in genomic technologies, many patients remain with a suspected but unknown genetic cause for their disease. Australian Genomics participants will be invited to join the PNB. The PNB will work with these participants with suspected genetic neuromuscular conditions, using cutting-edge genomic technologies to identify the underlying genetic cause. In addition, the PNB will perform further research to elucidate and understand the mechanisms for disease development and to help develop treatments.