Genetic Based Diseases of the Amish
The Amish are a group living mostly in rural Pennsylvania and Ohio who are well-known for the way they reject modern conveniences and culture for a traditional, off-the grid existence. Their culture is deeply isolationist, with families, rather than strangers, making up Amish communities. For this reason, the Amish gene pool is small, with little variation. Isolation from the outside world has led to the proliferation of genes responsible for certain genetic disorders among the Amish.
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SIDS
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Sudden Infant Death Syndrome (SIDS), which causes the sudden, unexpected death of an otherwise healthy infant, is a condition that can affect any population. However, Amish populations suffer SIDS deaths at greater rates than the general population. Scientists have pinpointed a gene mutation on Chromosome 6 that Amish children who get SIDS have. The gene, called TSPYL, seems to "act like a light switch." When it turns off, children tend to die of SIDS. This is important not only for treating Amish patients, but is a clue for SIDS research on the whole.
Cohen's Syndrome
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Cohen's Syndrome is an extremely rare genetic disorder characterized by delays in development, intellectual disability, small heads and distinctive facial features. A large proportion of the 100 people worldwide who have Cohen's are found in the Ohio Amish population, which has more than a dozen individuals with Cohen's. Even more cases are remembered in the community, but are not officially diagnosed because the individuals have died. Cohen's Syndrome in the Amish demonstrates how intermarriage within a small population can lead to a proliferation of rare genetic disorders.
Crigler-Najjar Syndrome
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Crigler-Najjar Syndrome is another extremely rare genetic disorder with only about 100 known cases worldwide, 20 percent of which are seen in the Pennsylvania Amish. Individuals with this disorder cannot break down certain waste products in their blood, resulting in blood toxicity. This can lead to brain damage and death for its sufferers. There is no cure, but treatment involves exposing the patient to bright blue lights for 10 to 12 hours per day. Not only is this expensive, but it is impossible to maintain in Amish communities, which don't have electricity.
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