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- 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
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)1
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… is part of the Undiagnosed Disease Network (UDN), an NIH Common Fund initiative that focuses on the most puzzling medical cases referred to the NIH Clinical Center in Bethesda, Maryland. It was … Undiagnosed Diseases Network to Target Rare Disorders with Genomic Medicine GenomeWeb 2013 November 9, 2013: Young …
CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch.
… newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch (MCIDGB). … As described by NHGRI … Dan Kastner, this reorganization was conducted, in part, to facilitate new "scientific synergies." These synergies … Senior Investigator, Charles Rotimi, has been selected to serve as the MCIDGB Branch Chief, a major scientific …
For Patients and Families
The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases.
… GARD provides immediate, virtually round-the-clock access to experienced information specialists who can furnish … genetic and rare diseases. So far, GARD has responded to over many inquiries on rare and genetic diseases. Requests … and teachers who work with people with a genetic or rare disease. Even scientists who are studying a genetic or rare …
Profile
Jim Mullikin pioneered DNA sequencing technologies during the Human Genome Project and other major advances in genomics.
… human genome sequence was finished just before I moved to NHGRI in 2003. Seeing the whole progress, from the very … involved in several other big projects looking at human genomic variation. Early in the Human Genome Project, even … for clarity. … Jim Mullikin retires after making major contributions to genome sequencing … Jim Mullikin pioneered …
Clinical Research
This study explores how microbes, such as bacteria and fungi, contribute to a very common skin condition called Atopic Dermatitis, known as eczema.
… The study is trying to determine how microbes, such as bacteria and fungi, contribute to a very common skin condition called Atopic Dermatitis (AD), also … for development of more effective treatments for the disease. … We invite you or your child to join a research …
Research at NHGRI
NHGRI center focused on computationally intensive approaches to analyze large-scale genomic data and identifying genetic contributions to human disease.
… and application of computationally intensive approaches to analyze large-scale genetic and genomic data, with a particular focus on identifying genetic contributions to human disease. … Genomics is, fundamentally, …
The Informed Consent Resource
Explore the basic elements of informed consent that are required by the Common Rule and that are relevant to genomics.
… elements of informed consent that are required by the Common Rule (45 CFR 46, Subpart A) and that are relevant to genomics. It also provides sample language that can be … topics such as a brief description of the underlying genomic science, the study design, the diseases(s) or …
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… of genetics, reflects a disorder that results from the contributions of multiple genomic variants and genes in conjunction with significant … called multifactorial diseases. This stands in contrast to a “simple” genetic disease that is more directly caused by …
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… Inflammatory Disease Genomics Branch (MCIDGB) studies the genomic and social determinants of complex diseases. … … and podoconiosis). MCIDGB researchers analyze genomic data to document and interpret the non-random distribution of … models that explore the patterns and determinants of common, complex diseases in populations in the United States …
For Patients and Families
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.
… A rare disease is generally considered to be a disease that affects … Altogether, rare diseases affect an estimated 25 million to 30 million Americans. … There are more than 6,800 rare …