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News Release
The U.S. National Institutes of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine and social science studies, to advance our understanding of this widespread illness to help develop effective therapies.
… (FDA) approved two gene therapies for the treatment of sickle cell disease in patients 12 years and older. About 100,000 … Americans and millions of people around the world have sickle cell disease , a hereditary disease common among those … sequencing technology is critical to the diagnosis of sickle cell disease.  NIH researchers successfully edited …
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 Membrane, Bacteria, Cell, Cell Membrane (Plasma Membrane) …
News Release
TCF1 (for T cell factor-1) is essential for the creation and persistence of disease-fighting antibodies in the bloodstream.
… that a transcription factor known as TCF1 (for T cell factor-1) is essential for the creation and persistence … TFH cells then interact with another type of white blood cell - called B cells - that actually produce the antibodies. … TCF1 deficiency causes "a severe defect" in the TFH cell response to viral infection, they concluded. "This …
Educational Resources
A phenotype is an individual's observable traits, such as height, eye color, and blood type.
… Gene, Heterozygous, Homozygous, Allele, Trait, Genotype …
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 body. … doors to medical advances, including generating cartilage cell tissue to repair knees, retinal cells to improve the …
News Release
A the largest genomics study of clear cell endometrial cancer (CCEC) tumors has identified mutations in the TAF1 gene.
… 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, …
Educational Resources
X-linked, as related to genetics, refers to characteristics or traits that are influenced by genes on the X chromosome.
… X Chromosome, Y Chromosome, Phenotype, Fragile X Syndrome, Trait …
Talking Glossary
Cell-free DNA testing is a laboratory method that involves analyzing free (i.e., non-cellular) DNA contained within a biological sample, most often to look for genomic variants associated with a hereditary or genetic disorder.
… Cell-Free DNA Testing … Cell-free DNA testing is a laboratory method that involves … Cell-free DNA testing is a laboratory method that involves … a hereditary or genetic disorder. For example, prenatal cell-free DNA testing is a non-invasive method used during … DNA that is naturally present in the maternal bloodstream. Cell-free DNA testing is also used for the detection and …
Event
Future Webinar Series
… of genetics and genomics is to decompose the sources of trait variation into constituent causal factors. The hope is … the interplay of genetic and non-genetic factors in trait variation. Following on the heels of NHGRI’s workshop … challenges for delineating and understanding human complex trait genetics.  Format A series of one-hour live webinars …
Educational Resources
Sex linked is a trait in which a gene is located on a sex chromosome.
… Sex linked is a trait in which a gene is located on a sex chromosome. … Cell, Mutation, Gene, Sex Chromosome … Sex linked is a trait in which a gene is located on a sex chromosome. …