Accelerating Genomics for Rare Diseases
Author Information
Author(s): Dawood Moez, Heavner Ben, Wheeler Marsha M., Ungar Rachel A., LoTempio Jonathan, Wiel Laurens, Berger Seth, Bernstein Jonathan A., Chong Jessica X., Délot Emmanuèle C., Eichler Evan E., Gibbs Richard A., Lupski James R., Shojaie Ali, Talkowski Michael E., Wagner Alex H., Wei Chia-Lin, Wellington Christopher, Wheeler Matthew T., Members GREGoR Partner, Carvalho Claudia M. B., Gifford Casey A., May Susanne, Miller Danny E., Rehm Heidi L., Sedlazeck Fritz J., Vilain Eric, O'Donnell-Luria Anne, Posey Jennifer E., Chadwick Lisa H., Bamshad Michael J., Montgomery Stephen B.
Primary Institution: Cornell University
Hypothesis
How can emerging genomics technologies and analytics be standardized and evaluated to improve genetic diagnosis in rare diseases?
Conclusion
The GREGoR Consortium aims to enhance genetic diagnosis in rare diseases by applying and standardizing new genomics technologies and making data available to researchers.
Supporting Evidence
- Rare diseases affect approximately one in twenty individuals worldwide.
- Rapid progress in DNA sequencing has improved rare disease diagnostics.
- The GREGoR Consortium aims to study thousands of rare disease cases.
Takeaway
This study is about a group of researchers working together to help find genetic causes of rare diseases by using new technology and sharing their findings with others.
Methodology
The study involves a collaborative research framework and the application of genomics technologies to analyze data from individuals with rare diseases.
Limitations
Many individuals suspected to have a rare disease still lack a genetic diagnosis despite prior testing.
Participant Demographics
Approximately 7500 individuals from around 3000 families, most of whom have undergone prior clinical genetic testing.
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