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- Genetic Architecture of Complex Traits1
- Genome Technology Program2
- 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
- Developmental Genotype-Tissue Expression (dGTEx)1
Research Funding
MorPhiC aims to develop a consistent catalog of molecular and cellular phenotypes for null alleles for every human gene by using in-vitro multicellular systems.
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 …
Staff
Dr. Neil Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the Childhood Complex Disease Genomics Section within the CPHR.
… the unique metabolic disturbances of kwashiorkor.   Sickle Cell Disease Alloimmunization  Sickle cell disease (SCD) is one of the most common …
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. … For your body to develop properly and stay …
News Release
NHGRI has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the Division of Intramural Research. Dr. Hanchard will head the Childhood Complex Disease Genomics Section within the MGMGB.
… methods to study several pediatric diseases, including sickle cell disease, severe childhood malnutrition, pediatric HIV in … complex pediatric diseases, diverse populations, sickle cell disease, severe childhood malnutrition, pediatric …
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 … A genome can be thought of as a huge DNA "book" in each cell that includes all of our genes (the chapters), and … significant differences between the genome of a healthy cell and that of a cancer cell. The analysis of the cancer …
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 …
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.
Talking Glossary of Genetic Terms
Race is a fluid concept used to group people according to various factors including, ancestral background and social identity.
… including, ancestral background and social identity. … Trait, Genetic Variation … Race is a social construct used to …
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.
… 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 cell debris and pathogens. According to the study, …