Search Results
For Patients and Families
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.
… A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United … a role in rare diseases. Such factors may directly cause disease, or interact with genetic factors to cause or increase the severity of disease. … include cystic fibrosis, which affects the respiratory and digestive systems (See: Learning About Cystic Fibrosis ); …
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch (MCIDGB) studies the genomic and social determinants of complex diseases. … that are disproportionately distributed by ethnicity and geography (e.g., diabetes, hypertension, heart and kidney …
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… Complex Disease … A complex disease is caused by the interaction of multiple genes and environmental factors. … Genes, Cancer, Heart Disease, Gene-environment Interactions … a disorder that results from the contributions of multiple genomic variants and genes in conjunction with significant …
News Release
Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.
… announced today that Baylor College of Medicine in Houston and the Medical College of Wisconsin in Milwaukee will be … includes seven clinical sites at academic medical centers and at the NIH, as well as a coordinating center operated by … for patients by analyzing DNA sequence, which can reveal variants in patients' genome that may be the cause of a …
News Release
In a large-scale study of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease.
… ancestral groups substantially improves identification of genomic variants associated with blood lipid levels. … ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels … About NHGRI and NIH … provide a powerful tool for studying risk of heart disease …
News Release
NIH will renew three awards totaling $73.2 million over five years to continue building the Clinical Genome (ClinGen) resource, an effort to collect and archive information about clinically relevant genes and genomic variants for use in precision medicine.
… Clinical Genome (ClinGen) resource, an effort to collect and archive information about clinically relevant genes and genomic variants for use in precision medicine. The National Human … About NHGRI, NCI and NIH … $73 million to continue building resource of genes and genomic variants for precision medicine …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… Charcot-Marie-Tooth disease (CMT) is an inherited neurological disease … degeneration of the muscles in the foot, lower leg, hand, and forearm, and a mild loss of sensation in the limbs, fingers, and toes. … degeneration of the muscles in the foot, lower leg, hand, and forearm, and a mild loss of sensation in the limbs, …
For Patients and Families
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
… severe health burdens on the world's poorest people and are often overlooked by drug developers or by others … drinking water, poor sanitation, substandard housing and little or no access to health care. … such as government officials, public health programs and the news media. Typically, private pharmaceutical …
For Patients and Families
​Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.​ ​
… is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine. … have known for a long time that common diseases like heart disease, asthma, cancer, and diabetes can run in families. Rare diseases like …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement … Parkinson's disease (PD) is a neurological condition that typically causes tremor and/or stiffness in movement. The condition affects about 1 …