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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 provides insights into more common disorders.​ … … members - Anastasia L. Wise, Ph.D., Shawn Burgess, Ph.D., and Brian P. Brooks, M.D., Ph.D.- will provide research …
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. … In a … that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated …
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 ); Huntington's disease, which affects the brain and nervous system (See: Learning About Huntington's Disease …
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… disease is caused by the interaction of multiple genes and environmental factors. … Genes, Cancer, Heart Disease, … a disorder 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. … …
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 … patient's data and disease characteristics with his or her genomic information collected from stored tissue specimens in …
Educational Resources
A genome-wide association study (GWAS) is an approach used in genetics research to associate specific genetic variations with particular diseases.
… (abbreviated 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 …
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. …
News Release
Researchers with support from NIH will conduct research into the genetic underpinnings of Alzheimer's disease.
… 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 … participants free of the disorder. They also will study genomic data from 111 large families, a portion of which are …
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. … Diseases are said … trypanosomiasis. Commonly called sleeping sickness, this disease is caused by a parasitic microbe transmitted by …