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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 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 …
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 …
Media Availability
The Cancer Genome Atlas identified molecular subtypes to help clinicians determine which tumors are more aggressive and which will respond to treatment.
… reported their results online October 23, 2014, in Cell . Thyroid cancer is the fastest growing cancer in the … . Integrated Genomic Characterization of Papillary Thyroid Carcinoma. Cell . DOI: 10.1016/j.cell.2014.09.050. WHO: Carolyn Hutter, …
News Release
Investigators with The Cancer Genome Atlas Research Network have identified new potential therapeutic targets for a major form of bladder cancer.
… some subtypes of bladder cancer - also known as urothelial carcinoma - resemble subtypes of breast, head and neck and … the p53 tumor suppressor protein, which helps regulate cell division. RTK/RAS is involved in regulating cell growth and development. The investigators also showed …
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. It can trigger the assembly of new molecules, such as a fat or protein, turn genes on and off, or spur a cell to move. … For your body to develop properly and stay …
Fact Sheet
A variety of approaches target the blood stem cells to relieve or reduce your symptoms of sickle cell disease.
… components differ and other treatment options for sickle cell disease, such as bone marrow transplant.  Each of these … the blood stem cells to reduce your symptoms of sickle cell disease.  Gene therapies use your own stem cells, while … the complications, treat or prevent symptoms of sickle cell disease. However, this type of gene therapy will neither …
News Release
Researchers are trying to understand a process whose rules are constantly being written and rewritten by cancer's rogue cells: who will more likely relapse.
… better understand what mutations - changes to the cancer cell's DNA - may lead to relapse. In recent research … A genome can be thought of as a huge DNA "book" in each cell that includes all of our genes (the chapters), and … significant differences between the genome of a healthy cell and that of a cancer cell. The analysis of the cancer …
Fact Sheet
Understanding gene therapy for sickle cell disease
… Sickle cell disease is the most common inherited blood disorder in … are only a handful of options to manage or treat sickle cell disease.  Now, researchers are developing new and emerging gene therapies to treat sickle cell disease. To help navigate these new therapies, more than …
Talking Glossary
Mosaicism refers to the presence of cells in a person that have a different genome from the body’s other cells.
… later in development. Mosaicism can affect any type of cell and does not always cause disease. … Mosaicism refers to …
News Release
Learn what happens when two genetic neighborhoods merge in brain tumor cells after a gene controlled by a gene-control switch turned on a cancer-growth gene.