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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genome Technology Program3
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
- Developmental Genotype-Tissue Expression (dGTEx)1
Health FAQ
Discuss these questions with your doctor or health care provider.
… Education Project welcomes your feedback about the sickle cell disease gene therapy resources. Please email your … your general understanding of gene therapy for sickle cell disease. We encourage you to use these educational … a plan for the treatments you are taking for your sickle cell disease. For example, if you are taking hydroxyurea, you …
Educational Resources
A germ line is the sex cells (eggs and sperm) that are used by sexually reproducing organisms to pass on genes from generation to generation.
… to generation. … Germ Line, Sexual Reproduction, Cell Biology … Germ line refers to the sex cells (eggs and …
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1 … occurs when a faulty housekeeping gene fails to remove cell waste, like lipids and cholesterol. The accumulation of … severe NPC1 symptoms. Credit: Darryl Leja, NGHRI.  With a single injection, mice showed improvements in motor …
Research Funding
MorPhiC aims to develop a consistent catalog of molecular and cellular phenotypes for null alleles for every human gene by using in-vitro multicellular systems.
… and Validation Centers will undertake applicant-proposed analyses of the data in order to characterize its quality and …
Educational Resources
A missense mutation is when the change of a single base pair causes the substitution of a different amino acid in the resulting protein.
… Mutation … A missense mutation is when the change of a single base pair causes the substitution of a different amino … protein. … A missense mutation is when the change of a single base pair causes the substitution of a different amino …
News Release
Researchers used whole genome sequence data to investigate the origin of the mutation that causes "sickling" of red blood cells.
… of the sickle allele will help clinicians redefine sickle cell subgroups and treat patients more effectively. This … "sickling" of red blood cells. ​ … Sickle allele, Sickle cell disease, Center for Research on Genomics and Global …
Educational Resources
Monosomy refers to the condition in which only one chromosome from a pair is present in cells rather than the two copies usually found in diploid cells.
… Monosomy … Monosomy is the state of having a single copy of a chromosome pair instead of the usual two …
News Release
NIH investigators have discovered that genomic switches of a blood cell are key to regulating the human immune system.
… (NIH) have discovered the genomic switches of a blood cell are key to regulating the human immune system. The … micrograph of a human T lymphocyte (also called a T cell) from the immune system of a healthy donor. Source: … important for the function and identity of each individual cell type. In addition, a large number of disease-associated …
Fact Sheets
A biological pathway is a series of actions among molecules in a cell that leads to a certain product or a change in the cell.
… pathway is a series of actions among molecules in a cell that leads to a certain product or a change in the cell. … researchers hoped that most forms of cancer were driven by single genetic mutations and could be treated by drugs that … chronic myeloid leukemia (CML). CML occurs because of a single genetic glitch that leads to the production of a …
Educational Resources
A nonsense mutation is the substitution of a single base pair that leads to the appearance of a stop codon where previously there was a codon specifying an amino acid.
… Mutation … A nonsense mutation is the substitution of a single base pair that leads to the appearance of a stop codon … … A nonsense mutation is the substitution of a single base pair that leads to the appearance of a stop codon …