Skip to content
  • About
    • What we do
    • Our history
    • Our team
    • Our committees
    • Our partners
    • About genomics
  • Services
    • What we offer
    • Research we’re supporting
  • Tools & resources
    • Search all tools & resources
    • Research ethics & governance
    • Consent & patient support materials
    • Evaluating genomic research & translation
    • Data governance
    • Access our datasets
    • Data capture & standardisation
    • Data analysis & interpretation
    • Workforce education
    • Our publications
    • Our submissions
  • Our project areas
    • Our project areas
    • Genomic implementation projects 2022
    • Genomic information management
    • Clinical genomic practice
    • Genomic literacy, workforce & training
    • Indigenous genomic priorities
    • Genomic diagnostics
    • Evaluating genomic research & translation
    • Australian health system policy & practice
    • Involvement & engagement
  • News & events
    • News
    • Events
    • Personal stories
    • Search news & events
  • Connect with us
Laughing child leaning back on woman's knee

Leukodystrophy Research Program

Home Research projects using our data Leukodystrophy Research Program

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.


More projects

Australian Genomics and RCPA Quality Assurance Program: developing an interpretive module for genomic testing for Childhood Syndromes and ID (Medicare item: 73358)

An international whole genome study to definitively map heritable risk in sarcomas

The Australian Undiagnosed Diseases Network (UDN-Aus): An internationally networked national approach for transforming diagnosis for individuals living with rare diseases

Connect with us

(03) 9936 6345
info@australiangenomics.org.au
50 Flemington Road, Parkville
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.

To stay informed about our work, sign up to our newsletter

Subscribe

Quicklinks

  • Home
  • What we do
  • What we offer
  • Tools & resources
  • Our publications
  • Our project areas
  • Research we’re supporting
  • Our team

Privacy

  • We follow the Australian Privacy Principles
  • General privacy policy
  • Website privacy policies
  • Terms & conditions

Website by Blueboat.