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GREGoR: Accelerating Genomics for Rare Diseases.
Moez Dawood1,2,3, Ben Heavner4, Marsha M Wheeler4
1Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Arxiv
|January 7, 2025
Summary
The Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium accelerates rare disease diagnosis by applying advanced genomics. It shares extensive data to improve genetic diagnostic approaches for unsolved cases.
Area of Science:
- Genomics
- Rare Diseases
- Genetic Diagnostics
Background:
- Rare diseases affect 1 in 20 people globally, yet over half lack a genetic diagnosis.
- Advances in DNA sequencing and data sharing have improved rare disease diagnostics.
- Many patients remain undiagnosed despite prior clinical genetic testing, often exome-negative.
Purpose of the Study:
- To study thousands of challenging rare disease cases and families.
- To apply, standardize, and evaluate emerging genomics technologies and analytics.
- To accelerate the adoption of advanced genomics in clinical rare disease diagnosis.
Main Methods:
- Established the Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium.
- Collected and analyzed genomic data from ~7500 individuals in ~3000 families.
- Made data available via the Genomic Data Science Analysis, Visualization, and Informatics Lab-space (AnVIL).
Main Results:
- Generated a foundational dataset of challenging rare disease cases.
- Provided a resource for evaluating and standardizing new genomics technologies.
- Facilitated global research efforts to develop improved genetic diagnostic approaches.
Conclusions:
- The GREGoR Consortium provides essential resources for advancing rare disease genomics.
- The shared data and framework will catalyze the development of novel diagnostic solutions.
- This initiative supports the future of genetic diagnostics in rare diseases.
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