Primary organisation: Murdoch Children's Research Institute (MCRI)
Principal Investigator: Dr Cas Simons
Flagship requested: Leukodystrophies
Co-applicant: Professor Richard Leventer (MCRI)
Approval date: March 2021
Applicant’s project summary:
Our group has been studying the genetic basis of leukodystrophies since 2012 and with international collaborators have identified and published several novel disease genes associated with this group of disorders. Our request to access the genomic data of patients that participated in the AGHA Leukodystrophy Flagship is intended to enable research re-analysis of the data with the aim of identifying a genetic diagnosis for all patients.
Initial steps will include re-analysis using our research informatic pipelines and comparison of variants with other phenotypically similar patients from our extensive catalogue of unsolved leukodystrophy patients from other national and international studies. This may enable us to identify causative variants in known disease associated genes, or build evidence for novel disease genes.