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Leading the Fight to treat and cure
Tay-Sachs, Canavan, Sandhoff, GM1 and related diseases

Glossary

There are 8 entries in this glossary.
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Term Definition
Pan-ethnic

Occurs in all ethnic groups.

Pharmacological Chaperone Technology

Pharmacological chaperone technology involves the use of small molecules that selectively bind to and stabilize proteins in cells, leading to improved protein folding and trafficking, and increased activity.

Pre-implantation Genetic Diagnosis (PGD)

Tests early-stage embryos produced through in vitro fertilization (IVF) for the presence of a variety of genetic conditions. One cell is extracted from the embryo in its eight-cell stage and analyzed. Embryos free of conditions that would cause serious disease can be implanted in a woman's uterus with the hopes of resulting in a healthy pregnancy.

Prenatal Screening

Refers to a variety of tests to determine the health of the fetus. In some cases of known carrier couples of genetic disease prenatal analysis can show if the fetus is affected by the disease. See Amniocentesis and Chorionic villus sampling (CVS).

Protein

A large complex molecule made up of one or more chains of amino acids. Proteins perform a wide variety of activities in the cell.

Proximal

Points near the center of the body. Proximal muscles are the trunk muscles and help maintain balance, opposite of distal. For more details visit: http://www.nlm.nih.gov/medlineplus/ency/article/002287.htm

Psychotic

Psychosis is a loss of contact with reality, typically including delusions (false ideas about what is taking place or who one is) and hallucinations (seeing or hearing things which aren't there). For more details visit: http://www.nlm.nih.gov/medlineplus/ency/article/001553.htm

Pyrimethamine

Pyrimethamine is a drug is approved for treating malaria, and has also been found to have an effect on other diseases such as toxoplasmosis, a life-threatening parasitic infection. It has also been used as an off-label therapy for Tay-Sachs (Late Onset and Juvenile). Pyrimethamine is based on pharmacological chaperone technology.

 

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