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- Ethical, Legal and Social Implications (ELSI) Research Program6
- 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 Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- 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
For Patients and Families
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
… severe health burdens on the world's poorest people and are often overlooked by drug developers or by others … drinking water, poor sanitation, substandard housing and little or no access to health care. … Diseases are said … trypanosomiasis. Commonly called sleeping sickness, this disease is caused by a parasitic microbe transmitted by …
For Patients and Families
​Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.​ ​
… is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine. …
Fact Sheets
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease​.
… Genome-wide association studies involve scanning markers … information to develop better strategies to detect, treat and prevent the disease. Such studies are particularly useful … disease-causing problem resides. However, the associated variants themselves may not directly cause the disease. They …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… Wilson disease is a rare genetic condition that causes a person's … too much of the mineral copper. Many foods contain copper, and it is important for people to have a small amount of … Wilson disease, copper builds up in the liver, brain, eyes and other organs. Over time, the extra copper can lead to …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… Gaucher disease is an autosomal recessive inherited disorder of … makes an enzyme called glucocerebrosidase that breaks down and recycles glucocerebroside - a normal part of the cell … at the Medical Genetics Branch of the National Human Genome Research Institute by Dr. Ellen Sidransky. Dr. …
News Release
Researchers have conducted the first study to look at the genomic underpinnings of obesity in continental Africans and African Americans.
… genomic underpinnings of obesity in continental Africans and African Americans. They discovered that approximately 1 … clusters in families. Researchers at the National Human Genome Research Institute (NHGRI), part of the National … to search for regions of the genome that contain genomic variants associated with the condition. Most previous studies …
Event
On December 12-13, NHGRI and NIAID will sponsor the 16th Genomic Medicine meeting, Genomic Medicine XVI: Host Genomics and Infectious Disease, in Bethesda MD.
… host genomic information in the diagnosis, prevention, and treatment of infectious diseases Examine obstacles and … Objectives … On December 12-13, 2024, the National Human Genome Research Institute (NHGRI) and the National Institute … Genomic Medicine meeting, Host Genomics and Infectious Disease: Opportunities for Implementing Genomic Medicine , in …
Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
… Dercum disease is a rare condition that is characterized by … - also known as Adiposis Dolorosa, Anders' syndrome and Dercum-Vitaut syndrome - is a rare condition that is … in women, 16 percent of the reported cases are males and it can also occur in people who are not obese. The …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement … Parkinson's disease (PD) is a … too early yet to be certain. New research studies, called genome-wide association studies (GWAS) are an approach that …
News Release
Scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans.
… While most differences in peoples' genomes - called variants - are harmless, some are beneficial, while others contribute to diseases and conditions, ranging from cognitive disabilities to … addition to new methods of prevention. The National Human Genome Research Institute (NHGRI), part of the National …