GREGoR: accelerating genomics for rare diseases.

Area of Science:

• Genomics
• Rare Diseases
• Medical Genetics

Background:

• Rare diseases affect ~1 in 20 people globally, posing significant diagnostic challenges.
• Despite advances in next-generation sequencing, over half of suspected rare disease cases remain undiagnosed.
• Existing clinical genetic testing often fails to identify the causative genetic variants in rare disease patients.

Purpose of the Study:

• To establish a collaborative framework for studying challenging rare disease cases.
• To apply, standardize, and evaluate emerging genomics technologies for rare disease diagnostics.
• To accelerate the clinical adoption of advanced genomics approaches for rare diseases.

Main Methods:

• The Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium studied thousands of rare disease cases and families.
• Utilized advanced genomics technologies and computational analytics to prioritize genes and variants.
• Made extensive clinical and genetic data available through the Analysis, Visualization and Informatics Lab-space (AnVIL).

Main Results:

• Generated comprehensive genomic datasets from over 7,500 individuals across 3,000 families.
• Identified potential genetic diagnoses for previously unsolved rare disease cases.
• Established a foundational resource for rare disease genomics research.

Conclusions:

• The GREGoR Consortium provides critical resources and datasets to advance rare disease diagnosis.
• Standardizing genomics technologies and data sharing is key to solving challenging rare disease cases.
• This initiative catalyzes global efforts to improve genetic diagnoses for rare diseases.