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Fact Sheets
DNA sequencing determines the order of the four chemical building blocks - called "bases" - that make up the DNA molecule.
… a patient has. This enables the physician to make better choices for treatments. Researchers in the NHGRI-supported …
News Release
Cari Young and Julie Nadel join NHGRI as public policy and education fellows.
News Release
The goat has contributed its DNA to a new method for high-quality, low-cost genome reconstruction, one that will be useful for reading human and other genomes.
… of years ago, whalers and merchant ships carried goats for food and allegedly dropped them off on the island before … with a goat genome because of the animals' importance as a food source in developing countries," said Timothy P. Smith, …
The Genomics Landscape
In the August 6, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about NHGRI's completion of the third phase of the ENCODE Project and how it reveals the most extensive catalog to date of candidate functional elements that may regulate the genes in the human and mouse genomes.
… family, and your friends and colleagues remain safe and healthy. Like most institutions, NHGRI is dealing with the … health disparities. Her research includes studies of urban food environments, community health solutions, and veterans’ …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… inactive gene along with one copy of the active gene - are healthy. They do not have Tay-Sachs disease but they may pass … parents who are Tay-Sachs carriers to give birth to healthy babies. Embryos created in-vitro are tested for … before being implanted into the mother, allowing only healthy embryos to be selected. Additional Resources Medline …
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… gene cause FMF. MEFV encodes a protein called pyrin. In healthy people, pyrin plays a role in the inflammatory … molecule that represses the function of pyrin in healthy individuals. In doing so, the pathogen suppresses the … mice with FMF-causing genomic variants. They infected both healthy and genetically engineered mice with Yersinia pestis …
Staff
Dr. Ayo Doumatey is a Research Fellow and Laboratory Manager at NHGRI's Center for Research on Genomics and Global Health.
… interest in a subtype of obesity: the metabolically healthy obesity (MHO) and microbiome in health and diseases. … into protective molecular mechanisms in metabolically healthy obese African Americans. NPJ Genom Med. 2018 Jan 29; … Proinflammatory and lipid biomarkers mediate metabolically healthy obesity: A proteomics study. Obesity (Silver Spring). …
The Genomics Landscape
In the January 13, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., announces the appointment of Valentina Di Francesco as founding director of the NHGRI Office of Genomic Data Science.
… since August 2010. As we move into 2022, stay safe and healthy! All the best,  … Data sharing is central to the … address health disparities, and reach a more equitable and healthy society. Both new offices report directly to the …
News Release
Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.
… compared the exome in 97 undiagnosed patients to their 113 healthy siblings using a menu of techniques to detect … undiagnosed diseases compared to 5.8 faulty genes in their healthy brothers and sisters. Researchers then investigated …