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- Genome Technology Program4
- 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
- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)1
News Release
NIH-backed African scientists are engaged in a global research endeavor to understand the genetic basis of disease in all populations.
… … NIH-backed African scientists are engaged in a global research endeavor to understand the genetic basis of disease … have shown that African populations contain the oldest and most diverse set of human genes. However, most studies of … 2010, the National Institutes of Health (NIH) Common Fund and the United Kingdom's Wellcome Trust, in partnership with …
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 genetic changes affect the structure and function of gene products leading to human disease. … A … in understanding how disruptions in signaling pathways and transcription factors contribute to disease. Our …
About Genomics
NHGRI considers the ethical, legal and social aspect of genomics research in our work, including these key policy issues
… use of genomics in society in order to advance knowledge and ensure that genomics benefits the health of all humans. To do this, we consider the ethical, legal, and social aspect of genomics research in our work, including these key issues. … Related …
News Release
The Physician-Scientist Development Program helps physicians develop research programs dedicated to the disorders they specialize in.
… suffering from glutaric aciduria type I - at the time, and still to date, a rare genetic disease with no known cure. … is one of the world's leading experts in the disease, and, armed with training from the National Human Genome Research Institute's (NHGRI) Physician-Scientist Development …
Social Media
NHGRI launched a Reddit Science "Ask Me Anything" series to share our genomics expertise with the public through online question and answer sessions.
… genomics expertise with the public through online question and answer sessions. Through AMAs, anyone with an internet … in real time and learn more about advances in genomics research that are improving people's lives.  … A Reddit AMA … the public through online question and answer sessions. … Social Media …
Genetic Disorders
Attention Deficit Hyperactivity Disorder (ADHD) is a neurological disorder that affects a person's ability to control their behavior and pay attention to tasks.
… that affects a person's ability to control their behavior and pay attention to tasks. … ADHD has many causes. Among … children with ADHD may also have learning disabilities, behavioral disorders or disorders of mood such as depression … Problems with planning, memory, schoolwork, motor skills, social skills, control of emotions, and response to …
Research Funding
The ELSI Publications and Products Database organizes publications for ELSI projects and activities by the last name of the principle investigator.
… Since its creation in 1990, the Ethical, Legal and Social Implications (ELSI) Research Program has funded hundreds of research projects, …
Research Funding
NHGRI aims to establish a research Consortium, ML/AI Tools to Advance Genomic Translational Research (MAGen), to collaboratively explore the feasibility of Machine Learning (ML) and Artificial Intelligence (AI) tools that can enhance the accuracy and precision of predicting how individuals with pathogenic genetic variants manifest disease.
… The need for increased research to develop tools to translate genomic research … medical devices in fields such as radiology, cardiology, and various other disciplines of medicine. Vast amounts of … requires thoughtful attention to the ethical, legal, and social implications (ELSI) of its use in genomic medicine and …
Research at NHGRI
CRGGH uses genomic tools to understand the pathobiology of metabolic disorders, including obesity, hypertension, diabetes, dyslipidemia, and kidney disease.
… The Center for Research on Genomics and Global Health (CRGGH) uses genomic … including obesity, hypertension, diabetes, dyslipidemia, and kidney diseases, in different human populations with …
News Release
An international team of researchers including NIH has completed the first comprehensive characterization of genomic diversity across sub-Saharan Africa.
… conditions in people of sub-Saharan African ancestry, and indicates that the migration from Africa in the early … of Nature , is the first to use both dense genotyping and whole-genome sequence data to explore the … scientific director of the NIH's National Human Genome Research Institute. "This is an important study that …