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- Ethical, Legal and Social Implications (ELSI) Research Program5
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… The Genetic Disease Research Branch studies the mechanisms by which … the structure and function of gene products leading to human disease. … A major focus of the branch's research lies … investigators use genetics and genomic approaches in both human and mouse systems to identify and better understand …
News Release
NIH and Inova Health are launching The Genomic Ascertainment Cohort, a pilot project that will examine gene and gene variant influence on phenotypes.
… large numbers of genotypes (an individual's collection of genes). Until now, it has been difficult for researchers to … to them. NIH will establish a new database of 10,000 human genomes and exomes, the 1-2 percent of the genome that … and phenotypes, gene variant influence, gene variants and disease conditions, gene variants and traits, Leslie …
Educational Resources
Gene regulation is the process of turning genes on and off.
… Gene Regulation … Gene regulation is the process of turning genes on and off. … Gene Expression, Genes, DNA, Transcription Factors … Gene regulation is the … used to control the timing, location and amount in which genes are expressed. The process can be complicated and is …
Fact Sheet
Understanding gene therapy for sickle cell disease
… Sickle cell disease is the most common inherited blood disorder in the … 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 50 …
Educational Resources
The gene is the basic physical unit of inheritance.
… … The gene is considered the basic unit of inheritance. Genes are passed from parents to offspring and contain the … needed to specify physical and biological traits. Most genes code for specific proteins, or segments of proteins, … the body. Humans have approximately 20,000 protein-coding genes.  … The gene is the basic physical unit of …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… Charcot-Marie-Tooth disease (CMT) is an inherited neurological disease characterized by a slowly progressive degeneration of … into at least six subtypes, caused by defects in different genes. … The newly discovered GARS gene (see Gene Discovery …
For Patients and Families
The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases.
… Center (GARD)  was created in 2002 by the National Human Genome Research Institute (NHGRI) and the former Office … and teachers who work with people with a genetic or rare disease. Even scientists who are studying a genetic or rare disease and who need information for their research have …
News Release
NIH is launching a program, Molecular Phenotypes of Null Alleles in Cells (MorPhiC), to better understand the function of every human gene and generate a catalog of the molecular and cellular consequences of inactivating each gene.
… Alleles in Cells program will first look at protein-coding genes … The National Institutes of Health is launching a program to better understand the function of every human gene and generate a catalog of the molecular and … in Cells (MorPhiC) program, managed by the National Human Genome Research Institute, aims to systematically …
Educational Resources
Gene environment interaction is an influence on the expression of a trait that results from the interplay between genes and the environment.
… of a trait that results from the interplay between genes and the environment. … Genes, Environmental Factors, Genetics, DNA … … influence the expression of phenotypes. For example, most human traits and diseases are influenced by how one or more …
Fact Sheet
Sickle cell disease resources for patients
… Project welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or … for a Research Study  U.S. Department of Health and Human Services (HHS)  Human Research Volunteer Informational Videos  U.S. …