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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
Health FAQ
Discuss these questions with your doctor or health care provider.
… Two to three months later you will have your stem cells collected.  Your stem cells will take seven to 10 weeks to be manufactured and processed in a lab.  If the modified stem cells meet certain criteria, you will go through chemotherapy …
News Release
Researchers used whole genome sequence data to investigate the origin of the mutation that causes "sickling" of red blood cells.
… origin of the mutation that causes sickling of red blood cells, which reduces their ability to carry oxygen and can … origin of the mutation that causes "sickling" of red blood cells. ​ … Sickle allele, Sickle cell disease, Center for … origin of the mutation that causes "sickling" of red blood cells. … News Release …
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.
… Expired Molecular Phenotypes of Null Alleles in Cells (MorPhiC) Phase I: Data Analysis and Validation Centers … November 2, 2022 Molecular Phenotypes of Null Alleles in Cells (MorPhiC) Phase 1: Data Production Research and … November 2, 2021 Molecular Phenotypes of Null Alleles in Cells (MorPhiC) Phase 1: Data Analysis and Validation Centers …
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.
… work together at many different levels - from organs to cells to genes. From both inside and outside the body, cells are constantly receiving chemical cues prompted by such … or lack of food. To react and adjust to these cues, cells send and receive signals through biological pathways. …
News Release
NIH investigators have discovered that genomic switches of a blood cell are key to regulating the human immune system.
… occur when the immune system mistakenly attacks its own cells, causing inflammation. Different tissues are affected … Dr. O'Shea's team began by searching for SEs in T cells, immune cells known to play an important role in rheumatoid …
Genetic Disorders
Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility.
… being the XY/XXY mosaic. In this variation, some of the cells in the male's body have an additional X chromosome, and … risk for breast cancer, a rare tumor called extragonadal germ cell tumor, lung disease, varicose veins and … Infertility, Gynecomastia, Breast Cancer, Extragonadal Germ Cell Tumor, Lung Disease, Varicose Veins, Osteoporosis, …
Fact Sheet
A variety of approaches target the blood stem cells to relieve or reduce your symptoms of sickle cell disease.
… severity of the disease. Learn more about your red blood cells to help you better understand these various approaches. … treatments A variety of approaches target the blood stem cells to reduce your symptoms of sickle cell disease.  Gene therapies use your own stem cells, while bone marrow transplants use the stem cells of a …
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.
… being written and rewritten by the cancer's rogue cells. Untangling the genetic influences on these rules will … analyses. This allowed the team to study the cancer cells' genome. A genome can be thought of as a huge DNA … (the chapters), and provides all the instructions for our cells to do their jobs. Because cancer cells have many …
Fact Sheet
Understanding gene therapy for sickle cell disease
Talking Glossary
Mosaicism refers to the presence of cells in a person that have a different genome from the body’s other cells.
… Mosaicism … Mosaicism refers to the presence of cells in a person that have a different genome from the body’s other cells. … Mosaicism refers to the presence of cells in a person that have a different genome from the …