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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- 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
Educational Resources
A marker is a DNA sequence with a known physical location on a chromosome. Markers can help link an inherited disease with the responsible genes.
… on a chromosome. Markers can help link an inherited disease with the responsible genes. … Marker, DNA Sequence, … Markers can also be used to track inheritance of traits or disease risk in families. … A marker is a DNA sequence with a known …
Fact Sheets
Newborn screening tests use a dried blood sample collected during the first week after birth to measure the presence of disease biomarkers.
… the first week after birth to measure the presence of disease biomarkers (a measurable substance or characteristic that is indicative of a disease). … Newborn screening in the United States is a major … that will not occur until adulthood? What is the risk to newborns that the identification of specific genetic …
Fact Sheets
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease​.
… to find genetic variations associated with a particular disease. … A genome-wide association study is an approach … to find genetic variations associated with a particular disease. Once new genetic associations are identified, … studies to identify genetic variations that contribute to risk of type 2 diabetes, Parkinson's disease, heart …
Educational Resources
A pedigree is a genetic representation of a family tree that diagrams the inheritance of a trait or disease though several generations.
… a family tree that diagrams the inheritance of a trait or disease though several generations. … Genotype, Inherited, … a family tree that diagrams the inheritance of a trait or disease though several generations. … Educational Resources …
Educational Resources
Gene therapy is an experimental technique for treating disease by altering the patient's genetic material.
… … Gene therapy is an experimental technique for treating disease by altering the patient's genetic material. … Genetic Disease, Genetic Disorder, Gene Mutation, Cancer Treatment, … technique that uses a gene(s) to treat, prevent or cure a disease or medical disorder. Often, gene therapy works by …
Educational Resources
An animal model is a non-human species used in medical research because it can mimic aspects of a disease found in humans.
… used in medical research because it can mimic aspects of a disease found in humans. … Biomedical Research, Ethics, … because it can mimic aspects of a biological process or disease found in humans. Animal models (e.g., mice, rats, … model studies to better understand human physiology and disease. By using animal models, researchers can perform …
Educational Resources
A mouse model is a laboratory mouse used to study some aspect of human physiology or disease.
… mouse used to study some aspect of human physiology or disease. … Mouse Model, Knockout Mouse, Genetic Engineering, Laboratory Experiment, Genetic Disease … A mouse model is a laboratory mouse used to study some aspect of human physiology or disease. A variety of different model organisms are used in …
Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… Genetics and genomics both play roles in health and disease. Genetics refers to the study of genes and the way … (See: Learning About Cystic Fibrosis ), Huntington's disease ( Learning About Huntington's Disease ), and … "foreign." However, by using stem cells, there may be less risk of this immune rejection, and the therapy may be more …
Infographic
Among the 24 chromosomes that make up the human genome, the Y chromosome is unique for its highly repetitive structure. Scientists are studying the Y and its unusual features to better understand human health and disease.
… its unusual features to better understand human health and disease.   11 Neat Facts About the Y chromosome In the … its unusual features to better understand human health and disease. … Y Chromosome, X Chromosome, Sex Chromosome, … its unusual features to better understand human health and disease. … Infographic …
Educational Resources
Genetic counseling is the professional interaction between a healthcare provider with specialized knowledge of genetics and an individual or family.
… Genetic Counseling, Healthcare, Prenatal Testing, Genetic Disease, Genetic Disorder, Health Professional … Genetic … interpret genetic tests designed to help estimate the risk of a disease. The genetic counselor conveys information to address …