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 … will be adapted to treat other organs affected by CF. Genetic Research May Lead to New Drugs to Treat Cystic … Center and at PathoGenesis Corporation have completed a genetic map for the Pseudomonas aeruginosa bacterium. This …
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, …
News Release
NIH researchers discover that while artificial intelligence (AI) tools can make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate when analyzing summaries written by patients about their own health.
… make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate when … the researchers designed questions about 63 different genetic conditions. These included some well-known … Leading AI models struggle to identify genetic conditions from patient-written descriptions …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease 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 … research community. The CCDGs study cardiovascular diseases (early-onset cardiovascular disease, atrial …
Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
… Huntington's Disease, Genetic Disease, Genes, Autosomal Dominant …
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 … Neglected diseases are conditions that inflict severe health burdens on … poorest people. Many of these conditions are infectious diseases that are most prevalent in tropical climates, … Diseases are said to be neglected if they are often …
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, … Progeria is an extremely rare genetic disease of childhood characterized by dramatic, … disease. In accordance with this clinical observation, the genetic mutation appears in nearly all instances to occur in …
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 …
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, …