News Release

NIH funds new effort to discover genetic causes of single-gene disorders

The Mendelian Genomics Research Consortium will include five centers and a data coordination site

Grant and Award Announcement

NIH/National Human Genome Research Institute

Mendelian Genomics Research Consortium

video: The Mendelian Genomics Research Consortium will help develop novel methods and approaches to identify the genetic causes of single-gene diseases. view more 

Credit: Ernesto del Aguila III, NHGRI

The National Institutes of Health will award nearly $80 million to support the establishment of the Mendelian Genomics Research Consortium and the development of novel methods and approaches that help researchers identify the genetic causes of single-gene diseases.

Over 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 awards will be provided by the National Human Genome Research Institute (NHGRI), part of NIH, and are expected to support the consortium over a period of five years, pending the availability of funds.

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 Carolyn Hutter, Ph.D., 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 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 new Mendelian Genomics Research Consortium will include five clinical sites and one data coordination center. The clinical sites aim to significantly increase the number of known Mendelian disease genes by implementing new genome-sequencing technologies, novel analytical approaches and international data sharing that includes appropriate patient consent. Research teams will also plan outreach and education efforts to empower the broader research community to perform more robust Mendelian gene discovery projects.

The new clinical centers will be led by:

The data coordination center will manage the release of genomic data and facilitate data sharing. Susanne May, Ph.D., at the University of Washington School of Public Health, Seattle, will lead the data coordination center.


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