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News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… therapies for a rare, genetic condition called Gaucher disease. Researchers from the National Human Genome Research … spleen, bone marrow and nervous system. The main type of cell that is affected by accumulated glucocerebroside is the macrophage, a type of white blood cell. Macrophages are cellular housekeepers that dispose of …
Educational Resources
A stem cell is a cell with the potential to form many of the different cell types found in the body.
… Stem Cell … A stem cell is a cell with the potential to form many of the different cell types found in the body. … Cell, Mitosis … A stem cell …
Fact Sheet
A variety of approaches target the blood stem cells to relieve or reduce your symptoms of sickle cell disease.
… target the blood stem cells to reduce your symptoms of sickle cell disease.  Gene therapies use your own stem cells, while bone …
News Release
Scientists set their sights on chromatin - the DNA-protein complex that packages DNA into chromosomes in the cell - to better understand how the genome works.
… complex that packages DNA into chromosomes in the cell - to better understand how the genome works. A better … are managed. … Chromatin influences gene activity in a cell by controlling access to the genes and regulatory … become a liver, kidney or skin cell - and the onset of disease, including cancer. But chromatin is difficult to …
Educational Resources
The plasma membrane, also called the cell membrane, is the membrane found in all cells that separates the interior of the cell from the outside environment.
… Plasma Membrane (Cell Membrane) … The plasma membrane, also called the cell membrane, is the membrane found in all cells that separates the interior of the cell from the outside environment. … Organelle, Nuclear …
News Release
A new study by scientists at NHGRI, suggests that iPSCs do not develop more mutations than cells that are duplicated by subcloning.
… developed the breakthrough technique to return any adult cell to its earliest stage of development (a pluripotent stem cell) and change it into different types of cells in the … person and the second set from a person with a blood disease called familial platelet disorder. Using skin cells …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… Institute (NHGRI) researchers are highlighting rare disease research that benefits affected patients and also … underlining this important relationship in advance of Rare Disease Day at NIH , a day-long symposium that is part of a … protein to the nerve cells, helping to break down the cell's waste products. Research on Gaucher's is just one of …
News Release
A the largest genomics study of clear cell endometrial cancer (CCEC) tumors has identified mutations in the TAF1 gene.
… Liaison Branch … In the largest genomics study of clear cell endometrial cancer (CCEC) tumors to date, National Human … survival rate. "Genomic mutations that contribute to clear cell endometrial cancer can vary from one patient to … commonly diagnosed gynecological cancer. Women with clear cell endometrial cancer, a rare type of endometrial cancer, …
For Patients and Families
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.
… A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United … a role in rare diseases. Such factors may directly cause disease, or interact with genetic factors to cause or …
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… Complex Disease … A complex disease is caused by the interaction of multiple genes and environmental factors. … Genes, Cancer, Heart Disease, Gene-environment Interactions … A complex disease …