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Staff
Cynthia Tifft, M.D., Ph.D. is the deputy clinical director for the National Human Genome Research Institute.
… by inhibiting activation of macrophage-derived microglial cells leading to neuronal apoptosis. This was the first … the Proia/Tifft team have generated induced pluripotent stem (iPS) cells from a patient with infantile Sandhoff disease and used … derived from Sandhoff disease-induced pluripotent stem cells exhibit impaired neurodifferentiation. J. Lipid …
Fact Sheets
A knockout mouse is a laboratory mouse in which researchers have inactivated an existing gene by replacing it or disrupting it with an artificial piece of DNA.
… Researchers begin by harvesting embryonic stem (ES) cells from early-stage mouse embryos four days after fertilization. ES cells are used because they are able to differentiate into … spend considerable time conducting tests to identify ES cells in which gene(s) actually have been knocked out. In …
Educational Resources
A germ line is the sex cells (eggs and sperm) that are used by sexually reproducing organisms to pass on genes from generation to generation.
… A germ line is the sex cells (eggs and sperm) that are used by sexually reproducing … Germ line refers to the sex cells (eggs and sperm) that sexually reproducing organisms … to the next (parents to offspring). Egg and sperm cells are called germ cells, in contrast to the other cells …
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 …
Staff
Dr. Manfred Boehm is a an adjunct investigator for the Office of the Clinical Director at NHGRI.
… boards of Trends in Cardiovascular Medicine , ISRN Stem Cells , Atherosclerosis , and Journal of Molecular Medicine . … acute Rantes production in vascular smooth muscle cells modulates inflammation following arterial injury in … diseases, precision medicine, human induced pluripotent stem cells (hiPSCs), arterial calcification …
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. ​ … origin of the mutation that causes "sickling" of red blood cells. …
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 … Immune system regulation, genomic switches in blood cells, autoimmune disorders, John O'shea M.D., Golnaz Vahedi …
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. …
Talking Glossary
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 body’s other cells. … Mosaicism refers to the presence of cells in a person that have a different genome from the … or the addition or loss of a chromosome. The condition can stem from a genetic error that occurs after fertilization of …
Fact Sheet
Understanding gene therapy for sickle cell disease