Primary organisation: Murdoch Children's Research Institute (MCRI)
Principal Investigator: Professor Paul Lockhart
Flagship requested: Acute care genomics (WGS/V2), Cardiovascular genetic disorders
Co-applicants: Professor Melanie Bahlo (WEHI – Walter and Eliza Hall Institute of Medical Research), Dr Haloom Rafehi (WEHI)
Approval date: June 2022
Applicant’s project summary:
This project involves the use of new genetic technologies to find the cause of rare genetic conditions for which the cause is currently unknown. Although most individual genetic disorders are rare, collectively they are common and have a significant impact on human health. Our research aims to provide gene identification for families and affected individuals with rare genetic disorders, with particular emphasis on disorder of brain structure and function, in order to be able to provide feedback to families via genetic counselling and genetic testing where appropriate. Data from Australian Genomics participants’ families will act as a control cohort. This will help us to optimise gene identification for our studies families and affected individuals.