The GREGoR Consortium (Genomics Research to Elucidate the Genetics of Rare diseases) seeks 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
Physician and patient look at genomic data.
Researchers make strides identifying genetic causes of rare neurodevelopmental disorders in the Turkish and worldwide populations

A global scientific team including researchers from Baylor College of Medicine work to find genetic answers for Turkish families.

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From left to right: Michael Talkowski, Heidi Rehm, and Anne O'Donnell-Luria will lead the new Center for Mendelian Genomics.
Broad researchers join a collaborative effort to improve diagnosis of rare genetic diseases

As part of the Genomics Research to Elucidate the Genetics of Rare Disease (GREGoR) newly funded consortium, Broad researchers will work to discover new genes underlying Mendelian disorders and return diagnoses to a greater proportion of patients and their families.

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