The discovery of the genes and genetic variants that underlie human Mendelian disorders is of significant biomedical relevance. The knowledge of those genes and variants will facilitate rapid and accurate diagnosis of patients with Mendelian disorders and may lead to new therapeutic approaches. This knowledge can also lend insight into the common or more complex phenotypes that involve similar genes, pathways, and phenotypes.
While the genetic basis of more than 5,000 Mendelian disorders has been determined so far, many more Mendelian disorders and their underlying genetic basis have yet to be discovered. Recent advances in genomics and bioinformatics have enabled the discovery of the genetic basis of Mendelian disorders using genome-wide approaches, which are more rapid and cost-effective than previous methods such as linkage mapping and candidate gene approaches.
The CMGs aim to make major contributions to the discovery of the genetic basis of Mendelian disorders in two principle ways. Primarily, they will leverage genome-wide sequencing technology and other complementary genomic approaches to discover the genetic basis that underlies Mendelian traits across the spectrum of Mendelian inheritance patterns. Further, they will accelerate discovery across the field of human genetics by disseminating the knowledge and effective approaches obtained over the award period. The CMG will accomplish this through outreach to individual investigators and coordination with other rare disease programs worldwide.
The CMG are co-funded by the National Human Genome Research Institute, the National Heart, Lung, and Blood Institute and the National Eye Institute. More information on the CMGs, including publications and opportunities for collaboration, can be found on the Coordinating Center managed website: www.mendelian.org.
Please note that the CMG are a research program do not provide treatment or other clinical advice. Please visit the Center links above to seek opportunities for collaboration.