Genetics
Genetics covers inherited and de novo disorders caused by chromosomal abnormalities, single-gene mutations, and mitochondrial DNA defects.
Interactive Visualization DNA → Protein — unzip a gene and build a protein Transcribe DNA into mRNA, then step codon by codon as the ribosome matches tRNA anticodons and links amino acids into a chain. Launch →- Achondroplasia (FGFR3 gain-of-function, most common skeletal dysplasia, rhizomelic short stature, foramen magnum stenosis, vosoritide)
- Angelman Syndrome (chromosome 15 maternal deletion, happy puppet syndrome, seizures, severe intellectual disability)
- DiGeorge Syndrome (22q11.2 Deletion) (conotruncal heart defects, hypocalcemia, T-cell immunodeficiency, palatal anomalies)
- Down Syndrome (Trisomy 21) (intellectual disability, characteristic facies, heart defects, Alzheimer's risk)
- Ehlers-Danlos Syndrome (connective tissue disorder, hypermobility, skin fragility, vascular EDS)
- Fabry Disease (X-linked lysosomal storage, alpha-galactosidase A deficiency, neuropathic pain, enzyme replacement)
- Familial Mediterranean Fever (MEFV gene, periodic fever, serositis, amyloidosis, colchicine)
- Fragile X Syndrome (FXS) (most common inherited intellectual disability, FMR1 CGG repeat expansion)
- Gaucher Disease (GBA gene, glucocerebrosidase deficiency, hepatosplenomegaly, enzyme replacement)
- Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu, arteriovenous malformations, epistaxis)
- Homocystinuria (CBS enzyme defect, homocysteine accumulation, thrombosis, lens dislocation)
- Klinefelter Syndrome (XXY) (hypogonadism, infertility, gynecomastia, testosterone replacement)
- Krabbe Disease (Globoid Cell Leukodystrophy) (GALC gene, galactocerebrosidase deficiency, psychosine toxicity, severe demyelination, HSCT pre-symptomatically)
- Loeys-Dietz Syndrome (TGF-beta receptor mutation, aortic aneurysm, bifid uvula, arterial tortuosity)
- Maple Syrup Urine Disease (BCAA metabolism defect, encephalopathy, dietary BCAA restriction)
- Marfan Syndrome (FBN1 fibrillin-1, aortic root dilation, tall stature, ectopia lentis)
- MELAS Syndrome (mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes, mtDNA mutation)
- Metachromatic Leukodystrophy (MLD) (ARSA gene, arylsulfatase A deficiency, sulfatide accumulation, most common leukodystrophy, gene therapy Libmeldy)
- Niemann-Pick Disease (sphingomyelinase deficiency, foam cells, hepatosplenomegaly, neurodegeneration)
- Neurofibromatosis Type 1 (NF1) (NF1/neurofibromin, café-au-lait spots, plexiform neurofibromas, MPNST risk, optic gliomas, selumetinib)
- Noonan Syndrome (RAS-MAPK pathway, short stature, pulmonic stenosis, webbed neck)
- Osteogenesis Imperfecta (Brittle Bone Disease) (COL1A1/COL1A2, fragile bones, blue sclerae, bisphosphonates)
- Phenylketonuria (PKU) (PAH enzyme defect, phenylalanine buildup, newborn screening, low-phe diet)
- Pompe Disease (acid maltase deficiency, glycogen storage, muscle weakness, enzyme replacement)
- Prader-Willi Syndrome (chromosome 15 paternal deletion, hyperphagia, obesity, hypotonia, GH deficiency)
- Rett Syndrome (MECP2 mutation, mostly girls, developmental regression, hand-wringing stereotypies)
- Tay-Sachs Disease (HEXA gene, GM2 gangliosidosis, neurodegeneration, cherry-red spot)
- Tuberous Sclerosis Complex (TSC) (TSC1/TSC2, hamartomas in brain/kidney/skin, epilepsy, mTOR inhibitors)
- Turner Syndrome (45,X) (monosomy X, ovarian dysgenesis, short stature, bicuspid aortic valve)
- Williams Syndrome (7q11.23 deletion, elfin facies, hypercalcemia, supravalvular aortic stenosis, hypersociability)
Interactive Visualization Meiosis: Making Eggs and Sperm Halve the chromosomes to make eggs and sperm, shuffle them by crossing-over and independent assortment — then trigger nondisjunction and watch an aneuploid gamete form. Launch → Interactive Visualization Inheritance: Dominant, Recessive and Punnett Squares Cross two parents and watch alleles sort into a Punnett square — flip dominance and carrier status to see why two unaffected parents can have an affected child. Launch → Interactive Visualization How Genes Are Switched On and Off Dock transcription factors on a promoter and watch the gene read out — then add a repressor, methylate the DNA, or send in a hormone and watch the same gene fall silent. Launch → Interactive Visualization CRISPR: How Gene Editing Works Program a guide RNA, watch Cas9 find its match and cut both DNA strands — then let the cell repair it to knock a gene out or paste a healthy one in. Launch →
All Genetics Articles A–Z
Every article in this specialty, listed alphabetically.
- Achondroplasia
- Angelman Syndrome
- DiGeorge Syndrome (22q11.2 Deletion Syndrome)
- Down Syndrome
- Ehlers-Danlos Syndrome
- Fabry Disease
- Familial Mediterranean Fever
- Fragile X Syndrome (FXS)
- Gaucher Disease
- Hereditary Hemorrhagic Telangiectasia
- Homocystinuria
- Klinefelter Syndrome
- Krabbe Disease
- Loeys-Dietz Syndrome
- Maple Syrup Urine Disease
- Marfan Syndrome
- MELAS Syndrome (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes)
- Metachromatic Leukodystrophy (MLD)
- Neurofibromatosis Type 1
- Niemann-Pick Disease
- Noonan Syndrome
- Osteogenesis Imperfecta (Brittle Bone Disease)
- Phenylketonuria
- Pompe Disease
- Prader-Willi Syndrome
- Rett Syndrome
- Tay-Sachs Disease
- Tuberous Sclerosis Complex (TSC)
- Turner Syndrome
- Williams Syndrome