Diseases

  1. Tay-Sachs Disease

    • Chromosome #: 15

    • Symptoms: Developmental delays, progressive muscle weakness, cherry-red spots in the eyes, seizures, blindness

    • Demographic: More common in individuals of Ashkenazi Jewish descent, but can occur in other populations

  2. Sickle Cell Anemia

    • Chromosome #: 11

    • Symptoms: Anemia, pain (sickle cell crises), fatigue, jaundice, susceptibility to infections

    • Demographic: Primarily affects individuals of African, Mediterranean, Middle Eastern, and South Asian descent

  3. Cystic Fibrosis

    • Chromosome #: 7

    • Symptoms: Lung infections, difficulty breathing, poor growth, pancreatic insufficiency

    • Demographic: Primarily affects individuals of European descent, but can occur in other populations

  4. Huntington's Disease

    • Chromosome #: 4

    • Symptoms: Involuntary movements (chorea), cognitive decline, psychiatric symptoms

    • Demographic: Worldwide, affects individuals of all ethnic backgrounds

  5. Marfan Syndrome

    • Chromosome #: 15

    • Symptoms: Tall stature, long limbs, joint hypermobility, aortic root dilation, lens dislocation

    • Demographic: Worldwide, affects individuals of all ethnic backgrounds

  6. Polydactyly

    • Chromosome #: Variable (multiple genetic causes)

    • Symptoms: Extra fingers or toes

    • Demographic: Occurs in individuals of all ethnic backgrounds

  7. Colorblindness

    • Chromosome #: X (OPN1LW, OPN1MW genes)

    • Symptoms: Difficulty distinguishing certain colors, particularly red and green

    • Demographic: Worldwide, more common in males

  8. Hemophilia

    • Chromosome #: X (F8 gene for Hemophilia A, F9 gene for Hemophilia B)

    • Symptoms: Prolonged bleeding, easy bruising, spontaneous bleeding into joints and muscles

    • Demographic: Primarily affects males, females can be carriers

  9. Duchenne Muscular Dystrophy

    • Chromosome #: X (DMD gene)

    • Symptoms: Progressive muscle weakness, difficulty walking, eventual loss of mobility

    • Demographic: Primarily affects males, females can be carriers