Search Results
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 … 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 …
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 the United States … discovered in 1989. Since then, more than 900 mutations of this single gene have been identified. In normal cells, … will be adapted to treat other organs affected by CF. Genetic Research May Lead to New Drugs to Treat Cystic …
News Release
Researchers with support from NIH will conduct research into the genetic underpinnings of Alzheimer's disease.
… 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 … effort is vital to advancing a deeper understanding of the genetic variants involved in this complex and devastating …
Research Training
Three-year residency program in medical genetics that trains physicians to diagnose, manage and counsel patients with genetic disorders.
… The National Human Genome Research Institute (NHGRI) offers a … physicians to diagnose, manage and counsel patients with genetic disorders. … 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.
… The Centers for Common Disease Genomics (CCDG) are a … The CCDG initiative explores a range of diseases with the … Genome Sequence, Gene Variants, Genetic Risk, Common Disease, Rare Disease, Dna Sequencing, …
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 … inherited disorder associated with the progressive loss of brain and muscle function. Symptoms usually develop during …
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 genes, which are the DNA instructions you inherit from your mother and your … Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess … There are many different types of genetic tests. Genetic tests can help to: Diagnose disease …
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
… Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging. … Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging. The … A genetic test for Hutchinson-Gilford progeria syndrome, also …
For Patients and Families
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
… Neglected diseases are conditions that inflict severe health burdens on the world's poorest people and are often overlooked by drug … Neglected diseases are conditions that inflict severe health burdens on the world's poorest people. Many of these conditions are infectious diseases that are most …
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. … and research studies have suggested that there may be a genetic component to this disorder. Individuals diagnosed …