# GLIA-CTN Genomic Expert Curation Panel

> **NIH NIH U24** · CHILDREN'S HOSP OF PHILADELPHIA · 2024 · $370,485

## Abstract

Abstract:
Leukodystrophies are a heterogeneous group of complex neurological conditions impacting the
genesis and maintenance of myelin, or white matter. Next generation sequencing and emerging
genomic technologies have improved the ability to identify molecular causes of disease, allowing for
the improved characterization of disease processes and focused therapeutics. However, molecular
characterization of leukodystrophies requires expert oversight as much of the current gene-disease
validation and clinical actionability have not been formally characterized. Current diagnostic testing
includes biochemical and genetic testing but reveals a diagnosis in only 50-80% of patients said to
have a myelin disorder by brain magnetic resonance imaging. This leaves many patients with an
uncertain diagnosis, which can limit treatment options, cause emotional distress, and limit access to
clinical trials and, for some families, reproductive choices. The Global Leukodystrophy Initiative
(GLIA) is a Rare Disease Clinical Research Network funded consortium of scientists and advocates
that work collaboratively to advance the study of and clinical trials for leukodystrophies. The GLIA
consortium has approached ClinGen to establish Gene and Variant Curation Expert Panels, using our
disease-specific experts and bioinformaticians to curate and assess leukodystrophy-related genes
and variants. There are at least 240 genes that currently fall in the purview of this group, which will be
expertly curated and managed by this group. For the 25 most commonly diagnosed genes causing
leukodystrophy, this group will provide comprehensive variant curation, including the most clinically
actionable disease-causing variants. The overall impact of this application will be to clarify the
disease-gene association in the leukodystrophies, improve understanding of clinical actionability in
these disorders, and clarify the pathogenicity of variants in key high frequency genes. Together, these
activities will provide the leukodystrophy community with diagnostic clarity for newborn screening,
clinical trials and clinical care.

## Key facts

- **NIH application ID:** 10881880
- **Project number:** 5U24NS131172-02
- **Recipient organization:** CHILDREN'S HOSP OF PHILADELPHIA
- **Principal Investigator:** Adeline Lucie Vanderver
- **Activity code:** U24 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $370,485
- **Award type:** 5
- **Project period:** 2023-07-15 → 2026-05-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10881880

## Citation

> US National Institutes of Health, RePORTER application 10881880, GLIA-CTN Genomic Expert Curation Panel (5U24NS131172-02). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10881880. Licensed CC0.

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