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Educational Resources
Monosomy refers to the condition in which only one chromosome from a pair is present in cells rather than the two copies usually found in diploid cells.
… Monosomy is the state of having a single copy of a chromosome pair instead of the usual two …
Educational Resources
A missense mutation is when the change of a single base pair causes the substitution of a different amino acid in the resulting protein.
… A missense mutation is when the change of a single base pair causes the substitution of a different amino … A missense mutation is when the change of a single base pair causes the substitution of a different amino …
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 … Sickle allele, Sickle cell disease, Center for Research on Genomics and Global …
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. … germs. Signal transduction pathways move a signal from a cell's exterior to its interior. Different cells are able to …
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 …
Research Funding
A list of scientific program analysts who carry out scientific analyses and project management duties in support of program directors in the NHGRI Extramural Research Program.
… Research Institute (NHGRI). They carry out scientific analyses and project management duties in support of program … of scientific program analysts who carry out scientific analyses and project management duties in support of program … of scientific program analysts who carry out scientific analyses and project management duties in support of program …
Educational Resources
A nonsense mutation is the substitution of a single base pair that leads to the appearance of a stop codon where previously there was a codon specifying an amino acid.
… A nonsense mutation is the substitution of a single base pair that leads to the appearance of a stop codon … A nonsense mutation is the substitution of a single base pair that leads to the appearance of a stop codon …
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
NIH awards more than $64 million to for a database of human cellular responses called the Library of Integrated Network-based Cellular Signatures or LINCS.
… Cellular Signatures (LINCS). Discovering such cell responses will improve scientists' understanding of cell pathways and aid in the development of new therapies for … opportunities and gaps in biomedical research that no single NIH institute could tackle alone, but that the agency …
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 … - and then subjected to a battery of genetic and genomic analyses. This allowed the team to study the cancer cells' … A genome can be thought of as a huge DNA "book" in each cell that includes all of our genes (the chapters), and …