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- 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
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)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 … discovered in 1989. Since then, more than 900 mutations of this single gene have been identified. In normal cells, … Your Health What is Cystic Fibrosis? Genetics and Rare Diseases Information Center Finding Reliable Health …
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… Disease … A complex disease is caused by the interaction of multiple genes and environmental factors. … Genes, Cancer, … physical and social environment. For this reason, complex diseases are also called multifactorial diseases. This stands in contrast to a “simple” genetic disease that is more directly caused by mutations in …
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 … genetics program; emphasizes clinical research, one of the few programs to do so; and grants access to the vast … experience in clinical and molecular genetics, metabolic diseases and cytogenetics. M.D. candidates must have …
News Release
Researchers with support from NIH will conduct research into the genetic underpinnings of Alzheimer's disease.
… Steven Benowitz … Teams of scientists will use support from the National Institutes of Health to conduct research into the genetic underpinnings of Alzheimer's disease, analyzing how … 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 then, it has … Identifier: NCT00001373 . … Autoinflammatory diseases are a group of disorders characterized by seemingly …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… disease phenotypes. … The CCDG initiative explores a range of diseases with the goal of: Undertaking variant discovery for … 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 … … Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess … 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 … the genetic factors that contribute to ADHD, with the hope of improving treatment for this condition in the future. … …
Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
… disease is an inherited disease characterized by the progressive 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).
… roles in health and disease. Genetics refers to the study of genes and the way that certain traits or conditions are … 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 …