Sachs disease

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Noun

Sachs disease - a hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood

infantile amaurotic idiocy, Tay-Sachs, Tay-Sachs disease

monogenic disease, monogenic disorder - an inherited disease controlled by a single pair of genes

autosomal recessive defect, autosomal recessive disease - a disease caused by the presence of two recessive mutant genes on an autosome

lipidosis - a disorder of lipid metabolism; abnormal levels of certain fats accumulate in the body

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References in periodicals archive ?

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.

Family gains support for boy with disease; Journey: Mum and son meet families also struck by condition

Some Epidemiological and Genetic Aspects of Tay Sachs Disease. (Academic Press, New York, 1962.).

An Evalution of the Demographic and Clinical Characterictics of Patients with GM2 Gangliosidosis

Mordarska, "Choroba Tay Sachsa (Tay Sachs Disease) in GT," in Genetyka Medyczna, Drewa and T.

Reference Data on Neonatal Serum N-Acetyl-[beta]-hexosaminidase Activity

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.

A bioscience revolution

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.

Moments captured in the lives of extraordinary families raising children with rare diseases

(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).

Applications of nucleic acid testing in diagnosis and therapy

For example, Tay Sachs disease has been seen primarily in the Ashkenazi Jewish community and sickle cell disease occurs most frequently among African Americans.

The case for universal carrier screening

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.

Genetics in the service of the people: advances in genomics can--and should--lead to progress in public health

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