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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)1
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- Impact of Genomic Variation on Function (IGVF) Consortium1
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- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
Genomic variants that increase risk of kidney disease are found in nearly one-third of West Africans
A study from researchers at National Institutes of Health (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people of West African ancestry.
… … A study from researchers at National Institutes of Health (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people from Ghana … National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) and co-author of the study. “Overall, we …
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… Jeannine Mjoseth … The National Institutes of Health (NIH) has awarded 16 four-year grants to academic … nationwide to begin the second phase of the Undiagnosed Diseases Network (UDN). The total investment planned for the … ​ … Undiagnosed Diseases Program, rare diseases, genetic disorder … UDN expands the footprint of the network …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… Jeannine Mjoseth … In the first study of its kind, researchers explored patients', … the success of clinical trials and implementation of new genetic curative therapies, into clinical treatment," said …
News Release
NIH 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.
… and a data coordination site. … The National Institutes of Health will award nearly $80 million to support the … methods and approaches that help researchers identify the genetic causes of single-gene diseases. Over 400 million people worldwide have been …
News Release
NHGRI researchers have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
… sickle cell disease. … New educational materials to help the sickle cell disease community learn about gene therapies … the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health. The Democratizing Education for Sickle Cell …
News Release
NIH-backed African scientists are engaged in a global research endeavor to understand the genetic basis of disease in all populations.
… engaged in a global research endeavor to understand the genetic basis of disease in all populations. But this can only be done by … references to help explain how people can inherit diseases and traits. One group produced a series of comic …
News Release
NIH researchers discover that while artificial intelligence (AI) tools can make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate when analyzing summaries written by patients about their own health.
… to evaluate medical questions. … National Institutes of Health (NIH) researchers discover that while artificial … make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate when …
News Release
Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new neurological condition characterized by issues with motor coordination and speech.
… a healthy brain. … Researchers at the National Institutes of Health have discovered a new neurological condition … Human Genome Research Institute (NHGRI) and Undiagnosed Diseases Program (UDP) identified three children with the … came from a 2015 study in which researchers identified a genetic neurological disease among Lagotto Romagnolo dogs, an …
Profile
Dr. Hanchard talks about his journey into genetics research, his collaborations with international researchers, and the importance of determination in science.
… with international researchers, and the importance of determination in science. … If you ask Neil Hanchard, … to study the genomics and environmental contributors of diseases in African populations. Diversifying genomics … and different forms of malnutrition, teasing apart the genetic contributions of these conditions. He also has …
The Genomics Landscape
NHGRI medical genetics training programs provide an array of education opportunities
… M.D., Ph.D, announced expansive new efforts for all of NIH to support equity, diversity, and inclusion in … in which NHGRI is centrally involved, such as the Genetic Counseling Training Program that is collaboratively … experiences in clinical and molecular genetics, metabolic diseases, and bioinformatic applications. The program …