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- Developmental Genotype-Tissue Expression (dGTEx)1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
Genetic Disorders
Skin cancer is the most common type of cancer in the United States.
… disease. Research suggests that a mutation in the CDKN2 gene on chromosome 9 plays a role in this form of melanoma. …
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… no clear inheritance pattern has been identified and no gene has been found to be the sole cause of this condition. … fitted best by either a dominant (one copy of the altered gene inherited from one parent causes the condition) or …
Health
Healthcare professionals determine whether individuals, other family members, or future generations may be at increased risk of developing particular conditions.
… hearing loss and deafness Type of Case Study: Gene-Based Intervention for Aminoglycoside Sensitivity …
MINC
Establishing stakeholder partnerships paves the way for developing an action plan for your clinical setting.
… Infiormation Summaires: Genetics South Shore Hospital: Gene Splash Telling Stories Texas Health Presbyterian: …
For Health Professionals
Essential genomics competencies, practice guidelines, and curricular resources for a variety of health professions.
… (CPIC®) : provides expert reviewed guidelines for drug-gene pair implementation, standardized terminology, amongst …
Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
… (this means that one out of a person's two copies of the gene, inherited from one parent, is altered). However, most …
News Release
The Genetics/Genomics Competency Center now includes a new section on pharmacogenetics and pharmacogenomics.
… resources for pharmacists implementing specific drug/gene pairs, such as CPIC guidelines, are also available. The …
Genetic Disorders
Holoprosencephaly is a disorder caused by the failure of the the embryonic forebrain to sufficiently divide into the double lobes of the cerebral hemispheres.
Genetic Disorders
Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility.