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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.
… 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. The National Human …
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.
… groups substantially improves identification of genomic variants associated with blood lipid levels. … In a … that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated … The authors include researchers at the National Human Genome Research Institute (NHGRI), part of the National …
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 … include cystic fibrosis, which affects the respiratory and digestive systems (See: Learning About Cystic Fibrosis ); … by the intramural program of the National Human Genome Research Institute (NHGRI). To learn more about TRND, …
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, … that results from the contributions of multiple genomic variants and genes in conjunction with significant influences …
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. … Investigators …
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… 2014 highlights research on the use of DNA biorepositories and electronic medical records (EMRs) to better understand … Many of the studies point to new associations of genetic variants with a number of conditions and disorders, such as … Network. eMERGE is supported by the National Human Genome Research Institute (NHGRI), part of the National …
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. …
Educational Resources
A genome-wide association study (GWAS) is an approach used in genetics research to associate specific genetic variations with particular diseases.
… Genome-Wide Association Studies (GWAS) … A genome-wide … GWAS) is a research approach used to identify genomic variants that are statistically associated with a risk for a disease or a particular trait. The method involves surveying …
News Release
Researchers with support from NIH will conduct research into the genetic underpinnings of Alzheimer's disease.
… underpinnings of Alzheimer's disease, analyzing how genome sequences-the order of chemical letters in a cell's … NIH awarded grants for using innovative new technologies and computational methods for the analysis. The scientists … vital to advancing a deeper understanding of the genetic variants involved in this complex and devastating disease and …
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 … trypanosomiasis. Commonly called sleeping sickness, this disease is caused by a parasitic microbe transmitted by … by the intramural program of the National Human Genome Research Institute (NHGRI). To learn more about TRND, …