The Scope E-Newsletter January 2010 UT Genetics Center Offers Exclusive Testing for Rare Disease

Huntington Disease is a progressive, genetic neurodegenerative disorder that typically appears in middle age and affects muscle coordination and cognitive functions. In the 1990s, a family in North Carolina showed symptoms of the disabling disease, but testing for mutation in the gene which is responsible for Huntington Disease did not detect a causative mutation. Through testing in the UT Genetics Center Molecular Diagnostic Laboratory, in association with researchers at Johns Hopkins University School of Medicine, it was discovered that the mutated gene was different than the one associated with Huntington Disease. The newly discovered disease was named Huntington Disease-Like 2 for its similarities to the more common disorder. Today, the UT Genetics Center is the only laboratory in the U.S. that offers the HDL2 test and is one of only four testing sites worldwide.

The UT Genetics Center is part of the UT Graduate School of Medicine and is instrumental in our clinical practice, research and academic missions. Learn more about the services available at the UT Genetics Center on its new web site.