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- Genome Technology Program3
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
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 …
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 …
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 …
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 … molecular and biochemical responses, and use computer analyses to uncover common patterns in these responses - … opportunities and gaps in biomedical research that no single NIH institute could tackle alone, but that the agency …
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.
… health. … International HapMap Project, Haplotype, SNPs, Single Nucleotide Polymorphisms, Chromsomes … HapMap (short … can refer to a combination of alleles or to a set of single nucleotide polymorphisms (SNPs) found on the same …
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. … Mosaicism refers to …
Educational Resources
A haplotype is a set of DNA variations, or polymorphisms, that tend to be inherited together.
… tend to be inherited together. … Haplotype, Chromosomes, Single Nucleotide Polymorphisms, SNPs, International HapMap …
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.
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 …
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 …