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.

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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


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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
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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
GREGoR 2022 Annual Meeting attendees pose for a photo outside
First meeting of the GREGoR Consortium Held at the Research & Innovation Campus

The GREGoR Consortium held its first annual meeting at the new state-of-the art Children’s National Research & Innovation Campus in Washington D.C. Nov. 1-3, 2022. We thank our GREGoR Research Center colleagues at Children's National Hospital for their partnership in hosting this meeting!

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Picture of Dr. Danny E. Miller
Pediatric geneticist earns NIH Early Independence Award

UW Medicine physician/scientist Danny E. Miller has received a competitive National Institutes of Health Director’s Early Independence Award, a part of the NIH’s High-Risk, High-Reward Research Program for his project titled "Long-Read DNA and RNA Sequencing to Identify Disease-Causing Genetic Variation and Streamline Testing". This award provides up to $1.25 million over 5 years.

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