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
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.
The meeting will explore how genomic research translates into clinical care and informs our understanding of the biology of rare disease. GREGoR Consortium PI Dr. Jennifer Posey from the Baylor College of Medicine is one of the Scientific Program Committee members for this conference and is happy to answer any questions from Consortium members.