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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.
… lipoprotein cholesterol levels, a major risk factor for heart disease. The study, published in the journal  Nature , was … lipid levels may increase the risk of developing a heart condition. Polygenic risk scores provide an estimate of …
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 complex … gene. Common examples of complex genetic diseases include heart disease, diabetes, and cancer. … A complex disease is …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… influences in the development of stroke and cardiovascular disease, and may also help lead to new treatment strategies. … to prevent a second ischemic stroke, and the Framingham Heart Study (FHS), which has followed the cardiovascular … and help develop new targets for treating stroke and heart disease, Dr. Williams said. "As genome sequencing …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… Institute (NHGRI) researchers are highlighting rare disease research that benefits affected patients and also … underlining this important relationship in advance of Rare Disease Day at NIH , a day-long symposium that is part of a … a person's hands and legs, yet spares patients' coronary (heart) arteries. "We described a pathway that could provide …
Genetic Disorders
Noonan syndrome involves unusual facial characteristics, short stature, heart defects, bleeding problems, developmental delays and malformations of the ribs.
… involves unusual facial characteristics, short stature, heart defects present at birth, bleeding problems, … involves unusual facial characteristics, short stature, heart defects present at birth, bleeding problems, … A characteristic facial appearance. Short stature. Heart defect present at birth (congenital heart defect). A …
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 …
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… identification of at least 15 other children with the same disease, and the establishment of the  NGLY1 Foundation  to support research about the disease and pursue possible treatments. In 2015, Matt was one … sequencing can transform the life of someone with a rare disease comes from  Sonia Vallabh and Eric Minikel . After a …
For Patients and Families
The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases.
… and teachers who work with people with a genetic or rare disease. Even scientists who are studying a genetic or rare disease and who need information for their research have … or rare diseases and advocacy groups who want up-to-date disease information for their members have contacted GARD. …
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… Diseases Program (UDP) is part of the Undiagnosed Disease Network (UDN), an NIH Common Fund initiative that … new insights about genetic and biochemical mechanisms of disease and insights into normal cell biology, biochemistry … role of molecular and biochemical events that can cause disease and, eventually, the development of diagnostic and …
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 characterized by a slowly progressive degeneration of … fingers, and toes. … CMT is an inherited neurological disease characterized by a slowly progressive degeneration of …