Genetics
Conditions
Achondroplasia
Angelman Syndrome
DiGeorge Syndrome (22q11.2 Deletion)
Down Syndrome (Trisomy 21)
Ehlers-Danlos Syndrome
Fabry Disease
Familial Mediterranean Fever
Fragile X Syndrome (FXS)
Gaucher Disease
Hereditary Hemorrhagic Telangiectasia
Homocystinuria
Klinefelter Syndrome (XXY)
Krabbe Disease (Globoid Cell Leukodystrophy)
Loeys-Dietz Syndrome
Maple Syrup Urine Disease
Marfan Syndrome
MELAS Syndrome
Metachromatic Leukodystrophy (MLD)
Niemann-Pick Disease
Neurofibromatosis Type 1 (NF1)
Noonan Syndrome
Osteogenesis Imperfecta (Brittle Bone Disease)
Phenylketonuria (PKU)
Pompe Disease
Prader-Willi Syndrome
Rett Syndrome
Tay-Sachs Disease
Tuberous Sclerosis Complex (TSC)
Turner Syndrome (45,X)
Williams Syndrome
Genetics covers inherited and de novo disorders caused by chromosomal abnormalities, single-gene mutations, and mitochondrial DNA defects.
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
- NF2-Related Schwannomatosis (formerly Neurofibromatosis Type 2)
- 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
Connections
- The Double Helix — the structure of DNA, and Rosalind Franklin's part in finding it
- Pharmacogenomics — how inherited variants change drug response
- Barbara McClintock — jumping genes, and why roughly half your genome came from them
- Svante Pääbo — ancient DNA, and what a consumer “Neanderthal percentage” does and does not mean
- Shinya Yamanaka — reprogrammed stem cells, and the honest state of regenerative medicine
- Blackburn, Greider & Szostak — telomeres, and commercial “biological age” tests audited
- Goldstein & Brown — familial hypercholesterolemia and the low-density lipoprotein (LDL) receptor
- Every Medicine Nobel, 1901–2025 — the complete laureate record
- All Diseases — every condition on this site by specialty
- Oncology — cancer, where genetics is most often actionable
- Lab Tests — what the tests behind a genetic workup measure
- Neurology
- Endocrinology
- Hematology