Search Results
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 … will be adapted to treat other organs affected by CF. Genetic Research May Lead to New Drugs to Treat Cystic …
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 … NIH provide extensive experience with common inherited / genetic diseases in both inpatient and outpatient settings …
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 genome sequences-the order of chemical … effort is vital to advancing a deeper understanding of the genetic variants involved in this complex and devastating …
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 … several novel and undiagnosed causes of autoinflammatory disease. For more information, see Protocol 94-HG-0105 or … and the environment. Our improved understanding of the genetic basis of autoinflammatory diseases has revolutionized …
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 collaborative large-scale … and protective variants contributing to multiple common disease phenotypes. … The CCDG initiative explores a range of … 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 … of genetic tests. Genetic tests can help to: Diagnose disease Identify gene changes that are responsible for an …
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 … Attention Deficit Disorder, Genetic Disorder, Genetic Disease, Genetic Condition, Gene Mutation … The Attention …
Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
… Huntington's Disease … Huntington's disease is an inherited disease characterized by the … 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).
… Genetics and genomics both play roles in health and disease. Genetics refers to the study of genes and the way … activities of cells and functions of the body. Examples of genetic or inherited disorders include cystic fibrosis (See: … 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 the National Human Genome Research … alterations that cause Gaucher disease were an important genetic risk factor for developing the more common disorder …