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Genetic
21 diseases
Sickle Cell Disease
Carrying one copy of the gene provides some resistance to malaria, which is why it is common in regi...
Cystic Fibrosis
The most common fatal genetic disease in Caucasians. Life expectancy has risen from early childhood ...
Hemophilia
Called the royal disease because it affected Queen Victorias descendants across European thrones. Ra...
Down Syndrome
The most common chromosomal condition, affecting 1 in 700 births. Caused by an extra copy of chromos...
Color Blindness
About 8% of men and 0.5% of women are color blind. John Dalton discovered it in himself and donated ...
Tay-Sachs Disease
Historically most common among Ashkenazi Jews, French Canadians, and Cajuns, though it occurs in all...
Huntingtons Disease
Fatal degenerative disease with no cure. Symptoms usually appear between 30-50, often after people h...
Thalassemia
Most common in Mediterranean, Middle Eastern, and Southeast Asian populations. Like sickle cell, pro...
Marfan Syndrome
A connective tissue disorder producing tall stature, long limbs, and fragile aortas. Abraham Lincoln...
Duchenne Muscular Dystrophy
The most common fatal childhood genetic muscle disease, affecting about 1 in 5,000 boys. Progressive...
Hemochromatosis
The body absorbs iron relentlessly, poisoning liver, heart, and joints. Called the Celtic curse for ...
Phenylketonuria
Untreated, brain-damaging levels of an amino acid build up. Folling traced it after a mother noticed...
Turner Syndrome
Affects about 1 in 2,500 girls, causing short stature and ovaries that fail at puberty. Henry Turner...
Klinefelter Syndrome
The most common chromosome disorder in males, about 1 in 600, often unnoticed until adulthood. Cause...
Neurofibromatosis
The Elephant Man was long mislabeled with it. Causes cafe au lait skin patches and benign nerve tumo...
Porphyria
Disorders of blood pigment chemistry with dramatic symptoms. Attacks bring severe abdominal pain and...
Fragile X Syndrome
The most common inherited intellectual disability. Named for the broken-looking X chromosome under t...
Ehlers-Danlos Syndromes
A group of connective tissue disorders featuring loose, painful joints and stretchy, fragile skin. D...
Progeria
Children with Hutchinson-Gilford progeria age at up to ten times the normal rate. They die of heart ...
Fibrodysplasia Ossificans Progressiva
Injured muscle and tendon turn into bone, slowly building a second skeleton. Surgery makes it worse ...
Gaucher Disease
The most common of the lysosomal storage diseases, causing enlarged organs and bone pain, most preva...