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News Release
By considering mixed genetic lineages, NHGRI researchers demonstrated that previously inferred links between a genomic variant that helps digest lactose and traits such as a person’s height and cholesterol level may not be valid.
… NIH study finds that failing to account for mixed genetic lineages could lead to inaccuracies. … accounting for population structure. By considering mixed genetic lineages, researchers at the National Human Genome … in the population to uncover true links between genomic variants and traits.” To look at European genetic ancestry, …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… Many human diseases have a genetic component. Some of these conditions are under … This list of genetic, orphan and rare diseases is provided for … A genetic disorder is a disease caused in whole or in part by a … change in the DNA sequence away from the normal sequence. Genetic disorders can be caused by a mutation in one gene …
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 …
Educational Resources
Genetic drift is a mechanism of evolution. It refers to random fluctuations in the frequencies of alleles from generation to generation due to chance events.
… Genetic Drift … Genetic drift is a mechanism of evolution. It refers to … Genetic Drift, Evolution, Population Genetics, Genes … Genetic drift is a mechanism of evolution characterized by … affects small, isolated populations, the effects of genetic drift can be strong, sometimes causing traits to …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… study shows genotype-first approach uncovers new links to genetic conditions. … care involves selecting patients with specific genomic variants and then studying their traits and symptoms; this … to clinical attention,” says Caralynn Wilczewski, Ph.D., a genetic counselor at the National Human Genome Research …
Talking Glossary
Genetic architecture is the combined effect of all genetic influences on a trait.
… Genetic Architecture … Genetic architecture is the combined effect of all genetic influences on a trait. … Genetic architecture describes the combined contribution of … many genes are involved, how common different versions or variants of those genes are in a population, what the …
Educational Resources
A genetic map is a type of chromosome map that shows the relative locations of genes and other important features.
… Genetic Map … A genetic map is a type of chromosome map that shows the … Genetic Map, Chromosome, Genes, Linkage Analysis, Family … A genetic map (also called a linkage map) shows the relative … location of genetic markers (reflecting sites of genomic variants) on a chromosome. A genetic map is based on the …
Policy Issues
Most genetic tests today are not regulated, meaning that they go to market without any independent analysis to verify the claims of the seller.
… As the field of genomics advances, genetic and genomic tests are becoming more common in, and out of, the clinic. Yet most genetic tests today are not regulated, meaning that they go … Several federal agencies regulate genetic tests: the Food and Drug Administration (FDA), the …
For Patients and Families
Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
… Genetic testing uses laboratory methods to look at your … Genetic tests may be used to identify increased risks of … There are many different types of genetic tests. Genetic tests can help to: Diagnose disease Identify gene … or manage your health. Predictive and pre-symptomatic genetic tests are used to find gene changes that increase a …
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.
… information about clinically relevant genes and genomic variants for use in precision medicine. The National Human … availability of information about which genes and genomic variants are relevant to human disease. NHGRI established the … identify which genes are associated with disease and which variants in those genes are disease-causing. Then, they work …