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- 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
- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
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.
… correcting the single faulty gene that causes Niemann-Pick disease, type C1 (NPC1). The gene therapy involved inserting … occurs when a faulty housekeeping gene fails to remove cell waste, like lipids and cholesterol. The accumulation of … able to make the functional NPC1 protein to correct the cell defects.  The gene therapy involved inserting a …
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch (MCIDGB) studies the genomic and … geography (e.g., diabetes, hypertension, heart and kidney disease, scleroderma and podoconiosis). MCIDGB researchers … as well as to understand human history and how it informs disease distribution and etiology. Through large genomic …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies. Findings on … management were published in 2014.  Monocyte/macrophage cell function is impaired in Erdheim- Chester Disease leading … had mutations in genes of the MAPK pathway, which controls cell growth and proliferation. These findings indicate that, …
Educational Resources
Apoptosis is the process of programmed cell death.
… Apoptosis … Apoptosis is the process of programmed cell death. … Programmed Cell Death, Development, DNA Repair, Cancer, Tumor, Cell Division … Apoptosis is the process of programmed cell …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… influences in the development of stroke and cardiovascular disease, and may also help lead to new treatment strategies. … a breakdown in a normal cellular process called programmed cell death, and cancer cell survival. They also made important discoveries about the …
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.
… populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the … and traits that are advantageous in some way. "Just like sickle cell trait is positively selected for because it protects …
News Release
In a study published in the journal Science, collaborators at NHGRI, the National University of Ireland, Galway, and the Whitney Laboratory for Marine Bioscience at the University of Florida, Augustine, reported that activation of the gene Tfap2 in adult stem cells in Hydractinia can turn those cells into germ cells in a cycle that can repeat endlessly.
… genes. Piwi1-positive spermatogonia are shown in yellow; cell nuclei are in turquoise. Germ cell induction and all stages of gametogenesis can be … a surprisingly large number of genes that are like human disease genes, making it a useful animal model for studying …
Educational Resources
The nucleolus is a region found within the cell nucleus that is concerned with producing and assembling the cell's ribosomes.
… Nucleolus … The nucleolus is a region found within the cell nucleus that is concerned with producing and assembling the cell's ribosomes. … Messenger RNA (mRNA), Ribonucleic Acid (RNA), Translation, Cell, Cytoplasm, Protein, Nucleus, Ribosome … The nucleolus …
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… genomic variants to find those that make a difference in disease susceptibility or in other traits. The awards are for … the genomes of thousands of people with and without a disease are compared to find the genomic regions containing … Such RNA carries out various regulatory functions in a cell. The researchers have shown that disrupting RNA …
Fact Sheets
A transcriptome is a collection of all the gene readouts present in a cell.
… is a collection of all the gene readouts present in a cell. … The human genome is made up of DNA (deoxyribonucleic … is a collection of all the gene readouts present in a cell. There are various kinds of RNA. The major type, called … behaviors of various cells and tissues, both in health and disease. By collecting and comparing transcriptomes of …