Clinical Domain Working Groups

The Global Leukodystrophy Initiative (GLIA-CTN) is an internationally recognized, formal consortium of clinicians, researchers, industry stakeholders and patient advocates who have shared goals of advancing diagnostics and treatments for the leukodystrophies; a group of complex, heterogenous conditions involving the white matter of the brain. Specialist providers within the GLIA-CTN collectively diagnose and manage hundreds of patients with these conditions every year. GLIA-CTN providers seek to collect and analyze longitudinal natural history data, develop clinical trial assessments, identify surrogate biomarkers, and establish clinical guidelines for the leukodystrophies. The group has extensive experience in genetic testing and variant curation in cohorts of patients with white matter disorders. As a subset of providers and researchers within the consortium, our team intends to use a stepwise approach to variant curation for this group of rare disorders, starting with TUBB4A and GFAP. We have chosen to start with TUBB4A- related leukodystrophy and Alexander disease (GFAP) because the GLIA-CTN consortium has performed significant and extensive collaborative research on these two disorders. These conditions additionally present with a strong disease association and we therefore feel confident in our ability to review and curate variants in these genes of interest. In a stepwise fashion, we hope to add other genes and gene families associated with white matter disorders that are the highest contributors to disease and the target of therapies and/or clinical trials to our Leuko VCEP. We intend to steadily enlarge the scope of our project over time.