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.

Icon of a parent and child with visible hearts symbolizing love

Why

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

     

Icon depicting a network of interconnected nodes

How

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
Icon of a handshake

Who

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
Toddler with ReNU syndrome sitting in grassy park playing with a toy zebra.
Families find connection amid rare genetic disorder

Five families with children who have the newly discovered rare condition, ReNU syndrome, recently gathered in a D.C. park. Scientists believe 100,000 more people have it.

Colorful image of multiple open journals. Image by kconcha from Pixabay.
Recent publications
Lein N H Dofash , et al. HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model Brain.
Sarah Stenton, et al. Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases HGG Advances.
Elizabeth Carbonell, et al. Male proband with intractable seizures and a de novo start codon disrupting variant in GLUL HGG Advances.

See more Publications