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- Ethical, Legal and Social Implications (ELSI) Research Program5
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genome Technology Program4
- Human Genome Reference Program (HGRP)1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
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 …
News Release
It’s teatime and doctors, researchers and patients are at the table. They celebrate a decade of work and launch the first in-human gene therapy trial for children with a rare and devastating disease, GM1 gangliosidosis.
… celebrate a decade of work and launch the first in-human gene therapy trial for children with a rare and devastating … disease. Jojo was about to receive the first experimental gene therapy treatment for the rare disease, GM1 gangliosidosis. A faulty gene halts a critical process Dr. Tifft, a geneticist at the …