NIH funding supports genetic single-gene disorder research

The National Institutes of Health will award nearly $80 million to support the establishment of the Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium and the development of novel methods and approaches that help researchers identify the genetic causes of single-gene diseases. Baylor College of Medicine will be one of five clinical sites included in the consortium. The National Human Genome Research Institute (NHGRI), part of NIH, will fund the consortium.

More than 400 million people worldwide have been diagnosed with one of about 7,000 Mendelian diseases, which are disorders generally thought to be caused by mutations in a single gene. The consortium's goal is to significantly increase the number of Mendelian disorders for which the genetic cause is known. To achieve this, the teams will perform enhanced data sharing and collaboration and focus on applying new technologies, genome sequencing strategies and analytical approaches.

“This consortium goes a significant step beyond NHGRI’s already successful efforts in this area but adds a more intense focus on data sharing and enabling the broader research community to tackle challenging diseases whose genetic causes were eluding identification by researchers,” said Dr. Carolyn Hutter, director of the NHGRI Division of Genome Sciences.

Recently, researchers have been identifying about 300 Mendelian disease genes each year using a technique called whole-exome sequencing. This method sequences all the regions of the genome responsible for encoding proteins. However, whole-exome sequencing has not been successful in identifying the genes responsible for many families with Mendelian diseases, requiring new ways of approaching the problem. The consortium's primary goal is to explore and find innovative methods to increase the rate at which the genes responsible for all Mendelian diseases can be identified.

The central vision of BCM-GREGoR is to translate these discoveries to precision molecular diagnostics in the clinic. The team’s goal is to define all Mendelian diseases and to catalog the human health impacts of genetic changes in all of the approximately 20,000 protein-coding genes that humans have. In order to drive this knowledge to the front lines of medical care, the Baylor team will continue to strengthen partnerships with genetic and genomic diagnostic laboratories and further develop tools to empower clinicians across all specialties to use genetic information in patient care.

“Over the past 15 years, we have made tremendous strides in the field of genomic medicine and rare disease research,” said Dr. Jennifer Posey, assistant professor of molecular and human genetics at Baylor and one of the principal investigators of the Baylor site, with Dr. Richard Gibbs and Dr. James Lupski. “Despite this, about two-thirds of rare disease families still remain without an identified genetic cause of their condition. We now have the opportunity to address this challenge head-on by harnessing new approaches to study families with rare diseases.”

Find more information on the new consortium here.