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


Search for glossary terms (regular expression allowed)
Begin with Contains Exact termSounds like
Term Definition

A change in the sequence of DNA. Many mutations are "silent" and do not cause disease. When mutations occur in genes and disrupt the production of a functional protein, they may lead to genetic disease.

Hits: 275


Enter your email to receive NTSAD's Topic of the Week or quarterly news.