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Fact Sheet
Understanding gene therapy for sickle cell disease
… Sickle cell disease is the most common inherited blood disorder in … are only a handful of options to manage or treat sickle cell disease. Now, researchers are developing new and emerging gene therapies to treat sickle cell disease. To help navigate these new therapies, more than …
Research Funding
Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium will work together to develop and implement approaches to integrating extant genotype and phenotype data for the purpose of conducting and disseminating Consortium-wide PRS analyses.
… of conducting and disseminating Consortium-wide PRS analyses. … of conducting and disseminating Consortium-wide PRS analyses. … of conducting and disseminating Consortium-wide PRS analyses. …
Talking Glossary
Mosaicism refers to the presence of cells in a person that have a different genome from the body’s other cells.
… later in development. Mosaicism can affect any type of cell and does not always cause disease. …
Educational Resources
HapMap (short for "haplotype map") is the nickname of the International HapMap Project, an international project that seeks to relate variations in human DNA sequences with genes associated with health.
… International HapMap Project, Haplotype, SNPs, Single Nucleotide Polymorphisms, Chromsomes … can refer to a combination of alleles or to a set of single nucleotide polymorphisms (SNPs) found on the same …
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.
… approved two gene therapies for the treatment of sickle cell disease in patients 12 years and older. About 100,000 … and millions of people around the world have sickle cell disease , a hereditary disease common among those whose … technology is critical to the diagnosis of sickle cell disease. NIH researchers successfully edited the …
Fact Sheet
Sickle cell disease resources for healthcare providers
… Education Project welcomes your feedback about the sickle cell disease gene therapy resources. Please email your … your general understanding of gene therapy for sickle cell disease. We encourage you to use these educational … Management of SCD: Expert Panel Review, 2014 CDC Sickle Cell Info for Healthcare Providers American College of …
Educational Resources
A haplotype is a set of DNA variations, or polymorphisms, that tend to be inherited together.
… Haplotype, Chromosomes, Single Nucleotide Polymorphisms, SNPs, International HapMap …
The Genomics Landscape
In the July 2021 issue of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., reflects on the legacy the LINCS program leaves as it has completed its goal of creating a large-scale, systematically generated molecular and cellular dataset.
… agents and their effects on the development of a cell’s normal state. In addition, LINCS developed a resource … “signatures” that reflect the responses that different cell types show under different conditions. LINCS was based … cellular characteristics, behavior, and/or function of a cell. In the past, most research studies designed to …
Talking Glossary
A gamete is a reproductive cell of an animal or plant.
… A gamete is a reproductive cell of an animal or plant. … A gamete is a reproductive cell of an animal or plant. In animals, female gametes are … called sperm. Ova and sperm are haploid cells, with each cell carrying only one copy of each chromosome. During … A gamete is a reproductive cell of an animal or plant. …
News Release
Learn what happens when two genetic neighborhoods merge in brain tumor cells after a gene controlled by a gene-control switch turned on a cancer-growth gene.