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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genome Technology Program2
- 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) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
News Release
The U.S. National Institutes of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine and social science studies, to advance our understanding of this widespread illness to help develop effective therapies.
… (FDA) approved two gene therapies for the treatment of sickle cell disease in patients 12 years and older. About 100,000 …
Educational Resources
The cell membrane, also called the plasma membrane, is found in all cells and separates the interior of the cell from the outside environment.
… Cell Membrane (Plasma Membrane) … The cell membrane, also called the plasma membrane, is found in all cells and separates the interior of the cell from the outside environment. … Plasma Membrane, …
Educational Resources
A cell is the basic building block of living things.
… Cell … A cell is the basic building block of living things. … Eukaryotes, Prokaryotes, Basic Biology … A cell is the basic building block of living things. All cells … to contain between 10 and 100 trillion cells. … A cell is the basic building block of living things. … …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… therapies for a rare, genetic condition called Gaucher disease. Researchers from the National Human Genome Research … spleen, bone marrow and nervous system. The main type of cell that is affected by accumulated glucocerebroside is the macrophage, a type of white blood cell. Macrophages are cellular housekeepers that dispose of …
Educational Resources
A stem cell is a cell with the potential to form many of the different cell types found in the body.
… Stem Cell … A stem cell is a cell with the potential to form many of the different cell types found in the body. … Cell, Mitosis … A stem cell …
News Release
Scientists set their sights on chromatin - the DNA-protein complex that packages DNA into chromosomes in the cell - to better understand how the genome works.
… complex that packages DNA into chromosomes in the cell - to better understand how the genome works. A better … are managed. … Chromatin influences gene activity in a cell by controlling access to the genes and regulatory … become a liver, kidney or skin cell - and the onset of disease, including cancer. But chromatin is difficult to …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… Institute (NHGRI) researchers are highlighting rare disease research that benefits affected patients and also … underlining this important relationship in advance of Rare Disease Day at NIH , a day-long symposium that is part of a … protein to the nerve cells, helping to break down the cell's waste products. Research on Gaucher's is just one of …
Educational Resources
The plasma membrane, also called the cell membrane, is the membrane found in all cells that separates the interior of the cell from the outside environment.
… Plasma Membrane (Cell Membrane) … The plasma membrane, also called the cell membrane, is the membrane found in all cells that separates the interior of the cell from the outside environment. … Organelle, Nuclear …
News Release
A new study by scientists at NHGRI, suggests that iPSCs do not develop more mutations than cells that are duplicated by subcloning.
… developed the breakthrough technique to return any adult cell to its earliest stage of development (a pluripotent stem cell) and change it into different types of cells in the … person and the second set from a person with a blood disease called familial platelet disorder. Using skin cells …
For Patients and Families
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.
… A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United … a role in rare diseases. Such factors may directly cause disease, or interact with genetic factors to cause or …