The mother of a young boy who suffers from a rare genetic condition has been travelling with her son to meet other families affected by Tay
Sachs disease.
Some Epidemiological and Genetic Aspects of Tay
Sachs Disease. (Academic Press, New York, 1962.).
Mordarska, "Choroba Tay Sachsa (Tay
Sachs Disease) in GT," in Genetyka Medyczna, Drewa and T.
Once genes can be edited to eliminate the genetic disorder that causes, for example, Tay
Sachs disease, which is usually fatal, a long step will already have been taken toward using the same techniques to prevent non-fatal conditions such as Down Syndrome.
My parents lost a child to Tay
Sachs disease before I was born and almost 50 years later, they still suffer from the loss of my brother, Rafi.
(21) The aim of prenatal screening is to detect birth defects, such as neural tube defects; chromosome abnormalities (e.g., Down syndrome, fragile X syndrome); and genetic disorders and other conditions (e.g., spina bifida, cleft palate, Tay
Sachs disease, sickle cell anemia, thalassemia, cystic fibrosis, and muscular dystrophy).
For example, Tay
Sachs disease has been seen primarily in the Ashkenazi Jewish community and sickle cell disease occurs most frequently among African Americans.
Some of the most common include Down syndrome, cystic fibrosis, muscular dystrophy, hemophilia, sickle cell disease, Tay
sachs disease, fragile X syndrome, and Huntington's disease.
