The GREGoR Consortium (Genomics Research to Elucidate the Genetics of Rare diseases) seeks to develop and apply approaches to discover the cause of currently unexplained rare genetic disorders.
Linking diseases to their genetic cause allows for improved genetic testing and a shortened diagnostic odyssey for families affected by rare disease, and can:
- improve care and expand treatment options
- facilitate connections with others affected by the same condition
- aid in medical care and family planning for related individuals
- help researchers understand the function of these genes in everyone
Whole-exome sequencing has helped researchers identify about 300 Mendelian disease genes each year, but this technique has not been successful in identifying the genes responsible for many Mendelian diseases. New approaches are needed and thus Consortium investigators will:
- engage in enhanced data sharing and collaboration
- apply new technologies, genome sequencing strategies, and analytical approaches
The Consortium will bring together communities affected by rare disease. We will:
- help researchers leverage new technologies to advance gene discovery
- assist clinicians in connecting patients and families to Consortium Research Centers
- partner with advocacy groups both to spread awareness of our work and to improve understanding of barriers to research participation - especially amongst those who have been under-represented
Despite advances in clinical genetic testing, more than 50% of individuals with a suspected Mendelian condition lack a precise molecular diagnosis. Authored through a collaboration of the 5 Research Centers in the GREGoR Consortium, this publication offers a guide for the next best steps after inconclusive molecular testing based on phenotype and prior evaluation, including when to consider referral to research consortia such as GREGoR, focused on elucidating the underlying cause of rare unsolved genetic disorders.