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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) Consortium1
- Developmental Genotype-Tissue Expression (dGTEx)1
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease (SCD). … A First-of-its-Kind Study CRISPR-Cas9 … Heart, Lung, and Blood Institute launched the Cure Sickle Cell Initiative  to accelerate development of the most … promising of these next generation of therapies. Sickle cell disease is the most common inherited blood disorder in …
Educational Resources
Sickle cell disease is a hereditary disease seen most often among people of African ancestry.
… Sickle Cell Disease … Sickle cell disease is a hereditary disease seen most often among … Gene, Inherited, Mutation, Protein, Recessive … Sickle cell disease is a hereditary disease seen most often among …
News Release
NIH researchers and collaborators have found that that sickle cell trait is prevalent among diverse human populations.
… Study finds that sickle cell trait is prevalent among diverse human populations. … … collaborators have found that being a carrier for sickle cell disease, known as having sickle cell trait , increases the risk of blood clots, a risk that …
Fact Sheet
Learn about the different types of hemoglobin.
… To understand sickle cell disease and gene therapy , you should first know about … make up red blood cells. … Hemoglobin types and sickle cell disease  Your red blood cells contain hemoglobin , a … oxygen to your body’s organs and tissues. Every red blood cell contains thousands of hemoglobin molecules.   The …
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 …
Clinical Research
The INSIGHTS study is exploring sickle cell disease in adults.
… into Microbiome and Environmental Contributions to Sickle Cell Disease and Leg Ulcers Study (INSIGHTS) study is exploring sickle cell disease in adults by looking at many factors, including … factors influence the onset and development of sickle cell leg ulcers. While leg ulcers are a primary focus of this …
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 … Hydractinia . Piwi1-positive oocytes are shown in yellow; cell nuclei are in turquoise. Germ cell induction and all …
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 …
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 … to ribosomes , the molecular machines located in the cell's cytoplasm; then the ribosomes read, or "translate," …
News Release
Researchers have now identified three health conditions for which people with SCT are at increased risk.
… to 3 million people have a gene variant associated sickle cell trait (SCT) and most never have related health … risk for some individuals." Hematologists and sickle cell experts evaluated the association of SCT with 24 health … show that it is associated with progression to end-stage renal disease requiring dialysis. Clearly, there is more work …