25,729 articles
Genetic susceptibility to coronary artery disease
Genetic susceptibility to coronary artery disease is inherited heart-attack risk from many common DNA variants, each with a small effect, distinct from rare single-gene diseases like familial hypercholesterolaemia.
Genetic testing and counseling in polycystic kidney disease
Genetic testing in polycystic kidney disease sequences DNA, mainly PKD1 and PKD2, to resolve uncertain diagnoses, refine prognosis, and enable predictive and prenatal testing of relatives.
Genetically encoded voltage indicators
Genetically encoded voltage indicators (GEVIs) are engineered fluorescent protein sensors that report membrane voltage optically, allowing noninvasive, cell-type-specific recording with millisecond resolution, mostly in neurons.
Genetically-determined skin fragility
Genetically-determined skin fragility: inherited disorders, prototypically epidermolysis bullosa (EB, also mechanobullous disease), in which structural protein defects make skin blister, peel or tear from minor trauma; four EB types, at least 21 genes, and first approved therapies since 2022.
Genetics and pathogenesis of Duchenne muscular dystrophy
Duchenne muscular dystrophy results from mutations in the DMD gene, the largest known human gene, which abolish dystrophin and make muscle-fiber membranes fragile under contraction.
Genetics of amyotrophic lateral sclerosis
Genetics of ALS: 5–10% familial, 90–95% sporadic; C9orf72, SOD1, TARDBP, FUS are major genes; 2023 guidelines recommend universal testing; tofersen treats SOD1-ALS.
Genetics of cardiomyopathy
The genetics of cardiomyopathy concerns inherited gene variants that cause heart muscle disease, mainly sarcomere genes like MYBPC3 and MYH7 in hypertrophic cardiomyopathy, usually autosomal dominant with incomplete penetrance.
Genetics of end-stage kidney disease
Genetics of end-stage kidney disease covers inherited variants that cause or accelerate progression to kidney failure: monogenic nephropathies, recessive APOL1 risk alleles, and polygenic risk, with genetic testing guidance.
Genetics of endometriosis
The genetics of endometriosis covers its inherited component: sisters of affected women carry over five times the risk, and twin studies attribute roughly half of disease liability to genes.
Genetics of orofacial clefts
The genetics of orofacial clefts is the study of inherited risk for cleft lip and palate, among the most common birth defects, affecting about 1 in 800 births.
Genetics of polycystic ovary syndrome
The genetics of polycystic ovary syndrome (PCOS) covers the inherited contribution to PCOS, a highly heritable endocrine condition in which genome-wide studies have mapped 29 risk loci.
Genetics of schizophrenia
The genetics of schizophrenia covers inherited risk in schizophrenia, a psychotic disorder whose heritability is roughly 60–80%, shaped by many common variants and rarer, higher-impact ones.
Geneva score
Geneva score (revised Geneva score, RGS): standardized 8-variable clinical decision rule from 2006 estimating pretest probability of pulmonary embolism; three tiers (0–3 low, 4–10 intermediate, ≥11 high); simplified 1-point-per-item version from 2008; AUC 0.693 versus Wells 0.778.
Genioplasty
Genioplasty is a surgical procedure that reshapes or repositions the chin by cutting the mandible and moving the freed bone segment, fixing it with plates or screws.
Genital herpes
Genital herpes, caused by HSV-1 or HSV-2, is a lifelong STI with recurrent genital sores; about 520 million people have genital HSV-2. Treated with acyclovir, valacyclovir, or famciclovir; no vaccine exists.
Genital nullification
Genital nullification (nullo, eunuch procedure) is removal of external genitalia for a smooth, non-binary contour without neovagina or neophallus; sought for gender dysphoria, body integrity dysphoria, or non-sexual identity.
Genital stage
Genital stage: fifth and final stage of Freud's psychosexual development, from puberty on, when libido shifts to genital primacy and mature sexual interests; largely unsupported empirically.
Genital ulcer
Genital ulcer: an open sore on genital, anal, or perianal skin, usually caused by genital herpes or syphilis, less often chancroid, LGV, or donovanosis; diagnosis requires laboratory testing.
Genital wart
Genital warts (condyloma acuminata, anogenital warts) are benign HPV-caused growths of genital skin and mucosa, 90% from HPV types 6 or 11, treated by topical or ablative therapies and prevented by vaccination.
Genitopatellar syndrome
Genitopatellar syndrome (GPS, OMIM 606170), a rare autosomal dominant congenital disorder caused by de novo truncating KAT6B variants, marked by absent patellae, genital and renal anomalies, contractures, and agenesis of the corpus callosum.
Genitoplasty
Genitoplasty is a family of reconstructive operations on the external genitalia, performed mainly in pediatric urology for congenital adrenal hyperplasia and other differences of sex development.
GENIUS trial
GENIUS trial (Genotyping Influences Outcome of Coronary Artery Stenting, NCT02707445): Korean multicenter registry of 5,000 PCI patients (2012–2014) linking CYP2C19 and P2Y12 genotypes to clopidogrel outcomes; distinct from GI Genius colonoscopy AI trials.
Genomic Medicine
Genomic medicine, also called precision or personalized medicine, is the medical discipline using a person's genomic information for diagnostic and therapeutic decisions; it grew from the Human Genome Project and spans oncology, pharmacogenomics, and rare disease diagnosis.
Genotoxicity
Genotoxicity: damage to genetic material by chemical, physical, or biological agents. Assessed via the Ames test, micronucleus, chromosomal aberration, comet, and transgenic rodent OECD test guidelines.
Genotoxicity assay
A genotoxicity assay is a laboratory test that detects whether a chemical damages DNA, causes mutations, or disrupts chromosomes, using bacteria, mammalian cell cultures, or whole animals.
Gensini score
The Gensini score is an angiographic index quantifying coronary artery disease severity from angiograms, weighting each stenosis by narrowing and segment importance, described by Goffredo Gensini in 1983.
Gentamicin
Gentamicin, an aminoglycoside antibiotic from Micromonospora purpurea discovered in 1963, kills aerobic Gram-negative bacteria via 30S ribosome binding; dosed 5-7 mg/kg daily IV, limited by nephro- and ototoxicity, and currently in shortage in the US and Canada.
Genu recurvatum
Genu recurvatum, abnormal knee hyperextension beyond 5 degrees, congenital or acquired from physeal arrest, trauma, or ligament laxity; treated by bracing, tibial osteotomy, or posterior soft tissue tensioning.
Genu valgum
Genu valgum (knock knees): inward angulation at the knee. Physiologic between ages 3-6, pathologic if persistent after 7; causes include rickets, dysplasias, trauma; treated by observation or guided growth.
Genu varum
Genu varum, or bowlegs, is an outward knee bowing. Usually a physiologic childhood variant resolving by age 2-3; pathologic forms, chiefly Blount disease, rickets, and dysplasias, need guided growth or osteotomy.