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- Developmental Genotype-Tissue Expression (dGTEx)1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
News Release
NHGRI convened geneticists, biologists, clinicians, bioinformatics specialists and more to provide expert advice on the future of its Genome Sequencing Program.
… are rare and typically due to alterations in a single gene. The Centers for Mendelian Genomics have made … variant discovery, genomics and medicine, Adam Felsenfeld, gene variant discovery … NHGRI convened geneticists, …
News Release
Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.
… may affect a disease condition. Investigation of gene function is a critical step in the process leading to … or new diseases. Recipients of the new NIH awards to study gene function (pending available funds) are: Baylor College … the function of a mutation in the FRMPD4/Preso1 gene that is thought to be responsible for neurological …
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… the potential disease-causing effects of approximately 200 gene variants per year that are thought to be involved in … modify the zebrafish and fruit fly to study the gene variant in question. They add a human gene variant or turn off the gene activity of a similar …
News Release
Researchers identified regions of the genome associated with skin color variation in some African populations, furthering skin disease and cancer research.
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… medical records in genomic research studies to understand gene-disease associations. A large number of samples in … and included: Genetic variants of FTO , an obesity-related gene. An electronic medical record-based, phenome-wide … new disease associations for genetic variants of FTO , a gene related to obesity in adults. Joshua Denny, M.D., …
The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… to see a 20-minute preview of the “Ken Burns presents The Gene: An Intimate History” documentary. Specifically, on Feb. … and feature patient voices … Special preview of “The Gene” documentary at 2020 AAAS Annual Meeting … NHGRI to host … in Genomic Science (CEGS), Rare Disease Day, The Gene, South by Southwest … In the January 2020 edition of The …
News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
… determined that CFZS is caused by mutations in the gene MYMK that encodes for the protein myomaker. This protein … harboring mutations identified in each family, only the gene MYMK was common to all three. A knockout mouse model … (genomically altered mice that are bred to lack a specific gene) displayed a complete lack of muscle development, …
News Release
Researchers have conducted the first study to look at the genomic underpinnings of obesity in continental Africans and African Americans.
… with genomic differences in the semaphorin-4D ( SEMA4D ) gene were about 6 pounds heavier than those without the … SEMA4D in obesity and obesity-related traits. (The SEMA4D gene plays a role in cell signaling, the immune response and … that can be activated to increase the work of a particular gene, he said. They plan to conduct larger studies of DNA …
News Release
NHGRI is awarding Genomic Innovator Awards to nine institutions to support the research of 12 early career scientists in the field of genomics. The awards will total up to $27 million over five years.
… Stanford, California Apply CRISPR tools to understand gene regulation related to common, complex diseases. Audrey … medicine, CRISPR, non-coding DNA and RNA sequences, gene regulation, single-cell biology, chromatin state …
Research Funding
The primary mission of the Alliance of Genome Resources (the Alliance) is to develop and maintain sustainable genome information resources that facilitate the use of diverse model organisms in understanding the genetic and genomic basis of human biology, health and disease. This understanding is fundamental for advancing genome biology research and for translating human genome data into clinical utility.
… (Alliance), Model Organism Databases (MODs), and the Gene Ontology (GO) Consortium is to develop and maintain … into clinical utility. … The Model Organism Databases and Gene Ontology (GO) Consortium resources serve as well-curated … and variants, human disease associations, pathways, gene expression, and both protein–protein and genetic …