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- Ethical, Legal and Social Implications (ELSI) Research Program5
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- Impact of Genomic Variation on Function (IGVF) Consortium3
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- Developmental Genotype-Tissue Expression (dGTEx)1
About NHGRI
NHGRI research undergoes peer review by advisory committees who review extramural grant applications and intramural research programs.
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… by which genetic changes affect the structure and function of gene products leading to human disease. … A major focus of … how genetic changes affect the structure and function of gene products leading to human disease. … The Genetic Disease …
News Release
NHGRI awards $6.7 million in new research grants to develop DNA sequencing technologies that are more sensitive, faster, cheaper and more accurate.
… that end, NHGRI is awarding $6.7 million in new research grants to develop DNA sequencing technologies that are more … Program. "The awards enable novel research in RNA function across a broad swath of biomedical and biological … ultimately lead to imprecise and incomplete read-outs of gene expression and transcript diversity. Additionally, this …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… Gene therapy for sickle cell disease is available to you … there are a number of clinical trials for sickle cell gene therapy, the journey can be similar across all … … Step 2: Eligibility Your eligibility to participate in a gene therapy may depend on: Your age. Your diagnosis of …
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project developed patient-focused educational materials for the sickle cell community.
… disease is an inherited disorder caused by a change in the gene that produces hemoglobin, the red blood cells that carry … the U.S. Food and Drug Administration (FDA) approved two gene therapies to treat sickle cell disease. More than 50 … for the Democratizing Education for Sickle Cell Disease Gene Therapy Project, which is led by NHGRI in partnership …
News Release
NIH researchers have identified a gene that makes yeast resistant to a lethal toxin.
… Newly discovered gene helps some yeast endure toxins and can help scientists … this analysis, the researchers determined that the KTD1 gene provides resistance to the K28 toxin. “This gene has … point to this region’s importance for the KTD1 protein’s function and highlight the competition between the toxin and …
Research Funding
The Division of Extramural Operations conducts the review of NHGRI's grant applications and grants management.
… Operations ensures the integrity of the Institute's grants-making mission, including conducting the review of grant applications and grants management. … The Division of Extramural Operations … to the Institute. Provides oversight and direction for grants management activities, ensuring that all awards are …
Staff
Dr. Paul Liu is a senior investigator in NHGRI's Translational and Functional Genomics Branch.
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… approaches. Dr. Liu discovered that a CBFB-MYH11 fusion gene is the product of chromosome 16 inversion, a common … CBFB-MYH11 for leukemia development, and how this fusion gene works. His group has also made important discoveries … of Runx1, which was previously believed to be the only function of this fusion gene (Kamikubo et al., Cancer Cell …
News Release
Researchers identified 13 gene regions that influence cholesterol levels, some of which affected people differently if they are smokers or former smokers.
… researchers and their collaborators identified 13 new gene regions that influence cholesterol levels, some of which … smoking affected the relationship between an individual's gene variants and their lipids. Lipids consist of low-density … African ancestry. This enabled researchers to find new gene regions associated with lipids that could not be found …
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.
… powerful new toolset for finding potential disease-causing gene variants in undiagnosed patients. The work is … using a menu of techniques to detect potentially harmful gene variants. Researchers found, on average, 6.6 faulty … then investigated which of these potentially bad gene variants contributed to the patients' undiagnosed …