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- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- 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
Genetic Disorders
Cystic fibrosis is a genetic disease that causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas.
… Cystic fibrosis (CF) is the most common, fatal genetic disease in the United States. About 30,000 people in … will be adapted to treat other organs affected by CF. Genetic Research May Lead to New Drugs to Treat Cystic … Your Health What is Cystic Fibrosis? Genetics and Rare Diseases Information Center Finding Reliable Health …
News Release
Researchers with support from NIH will conduct research into the genetic underpinnings of Alzheimer's disease.
… National Institutes of Health to conduct research into the genetic underpinnings of Alzheimer's disease, analyzing how … effort is vital to advancing a deeper understanding of the genetic variants involved in this complex and devastating … the causes, treatments and cures for both common and rare diseases. For more information about NIH and its programs, …
Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
… This study was initially launched in 1994 to identify the genetic cause of familial Mediterranean fever (FMF). Since … Identifier: NCT00001373 . … Autoinflammatory diseases are a group of disorders characterized by seemingly … and the environment. Our improved understanding of the genetic basis of autoinflammatory diseases has revolutionized …
Research Training
Three-year residency program in medical genetics that trains physicians to diagnose, manage and counsel patients with genetic disorders.
… physicians to diagnose, manage and counsel patients with genetic disorders. … The Medical Genetics Residency Program exposes students to rare genetic disorders that might not be seen in a more typical … experience in clinical and molecular genetics, metabolic diseases and cytogenetics. M.D. candidates must have …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… phenotypes. … The CCDG initiative explores a range of diseases with the goal of: Undertaking variant discovery for … genomic architecture underlying common, complex inherited diseases. Understand how best to design rare variant studies … disease phenotypes. ​ … Genome Sequence, Gene Variants, Genetic Risk, Common Disease, Rare Disease, Dna Sequencing, …
For Patients and Families
​Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
… Genetic testing uses laboratory methods to look at your … you inherit from your mother and your father. … Genetic tests may be used to identify increased risks of … changes that increase a person's likelihood of developing diseases. The results of these tests provide you with …
Clinical Research
The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study explores the genetic factors contributing to ADHD to improve treatment in the future.
… The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study is exploring the genetic factors that contribute to ADHD, with the hope of … and research studies have suggested that there may be a genetic component to this disorder. Individuals diagnosed …
Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
… loss of brain and muscle function. … Huntington's Disease, Genetic Disease, Genes, Autosomal Dominant … Huntington’s …
Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… activities of cells and functions of the body. Examples of genetic or inherited disorders include cystic fibrosis (See: … Genomics includes the scientific study of complex diseases such as heart disease, asthma, diabetes, and cancer … diseases are typically caused more by a combination of genetic and environmental factors than by individual genes. …
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.
… obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease. Researchers from … alterations that cause Gaucher disease were an important genetic risk factor for developing the more common disorder … cell to 'empty the trash' that accumulated because of the genetic deficiency of the enzyme," said Ellen Sidransky, …