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What are Ashkenazi Jewish Genetic Diseases?

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What are Ashkenazi Jewish Genetic Diseases?

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Ashkenazi Jewish genetic diseases are a group of rare disorders that occur more often in people of Eastern European (Ashkenazi) Jewish heritage than in the general population. Even though most of these diseases are severe and life-limiting, some can be treated to reduce symptoms and prolong life. Some of these diseases can be found during pregnancy through chorionic villus sampling (CVS) or amniocentesis. This testing is done usually if one or both parents are carriers of a genetic disease. Diseases in this group include: • Bloom syndrome. Babies with this disease are born small and remain shorter than normal as they grow. Their skin may look red, and they have more lung and ear infections than children normally have. • Canavan disease. This disease gradually destroys brain tissue. • Cystic fibrosis. This disease causes very thick mucus in the lungs and problems with digesting food. • Familial dysautonomia (FD). People with this problem cannot feel pain, they sweat a lot, and they have

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