Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Divisions
Programs
- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… findings. When Down syndrome is suspected in a person, a genetic test called a chromosome analysis is performed on a … of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra … An unaffected person can carry a rearrangement of genetic material between chromosome 21 and another …
Educational Resources
A pedigree is a genetic representation of a family tree that diagrams the inheritance of a trait or disease though several generations.
… Pedigree … A pedigree is a genetic representation of a family tree that diagrams the … … Genotype, Inherited, Phenotype, Proband, Family History, Genetic Counseling … A pedigree, as related to genetics, is a … individuals have a trait(s) of interest. … A pedigree is a genetic representation of a family tree that diagrams the …
Educational Resources
A carrier is an individual who carries and is capable of passing on a genetic mutation associated with a disease and may or may not display disease symptoms.
… an individual who carries and is capable of passing on a genetic mutation associated with a disease and may or may not display disease symptoms. … Genetic Mutation, Genes, Alleles, Recessive, Dominant … A … an individual who carries and is capable of passing on a genetic mutation associated with a disease and may or may not …
Staff
Julie Sapp is a genetic counselor in the NHGRI in the Genomic Services Research Program (GSRP).
… multi-disciplinary research team where she draws upon her genetic counseling training and over a decade of behavioral … questions related to the practice of clinical genomics and genetic counseling. Her work in this area has included … behavioral constructs such as the psychosocial impact of genetic disease, patient attitudes and beliefs, …
Media Availability
National DNA Day events give the public a chance to ask questions about genetics and genomics.
Educational Resources
Risk, in the context of genetics, refers to the probability that an individual will be affected by a particular genetic disorder.
… that an individual will be affected by a particular genetic disorder. … Gene, Gene Environment Interaction, … individual will be affected by a particular heritable or genetic disorder. Both a person’s genome and environmental … An individual’s risk may be higher because they inherit a genetic variant (or allele) in one gene or a combination of …
Educational Resources
A genome-wide association study (GWAS) is an approach used in genetics research to associate specific genetic variations with particular diseases.
… approach used in genetics research to associate specific genetic variations with particular diseases. … Genome-Wide … approach used in genetics research to associate specific genetic variations with particular diseases. … Educational …
Talking Glossary of Genetic Terms
Race is a fluid concept used to group people according to various factors including, ancestral background and social identity.
… ancestral background and social identity. … Trait, Genetic Variation … Race is a social construct used to group … background and social identity. … Talking Glossary of Genetic Terms …
News Release
On March 16, Rep. Louise M. Slaughter (D-N.Y.), lead author of the Genetic Information Nondiscrimination Act of 2008 (GINA), passed away at the age of 88.
… 16, Rep. Louise M. Slaughter (D-N.Y.), lead author of the Genetic Information Nondiscrimination Act of 2008 (GINA), … and her work on GINA helped to create protections against genetic discrimination with health insurance and employment. … allow patients and research participants to undergo genetic and genomic testing without fear that their results …
News Release
Researchers at the National Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment.
… Genome sequencing reveals genetic basis for disabling pansclerotic morphea, a severe … to reduced mobility. Because the disorder is so rare, its genetic cause had not been identified until now. “Researchers … NHGRI and NIH … NIH scientists find treatment for rare genetic skin disorder … Researchers at the National …