MAR 20, 2014 7:00 AM PDT

Huntingtons Disease: Twenty years and counting

Speaker

Abstract

Huntington's disease (HD) is a progressive, inherited, degenerative brain disorder that produces physical, mental and emotional changes. Named for George Huntington, the physician who first described the illness in 1872, Huntington's disease used to be known as Huntington's chorea, from the Greek for choreography, or dance. The name refers to the involuntary, jerky movements that can develop in later stages of the illness. In 1993, a consortium of scientists from six laboratories found the mutation, an expanded CAG repeat sequence, of 36 repeats or more, in exon 1 of the HTT gene on chromosome 4 that is responsible for Huntingtons disease. Since that seminal discovery many basic science advances have been made in understanding the pathways, proteins and DNA sequences that either the wild type and/or mutant protein impact. In fact, it is this plethora of possible targets that challenges current drug discovery efforts around small molecules or biologics that could either slow and/or stop the progression of this disease. This lecture will highlight unique aspects of Huntingtons disease basic, translational and clinical science that have contributed to our current knowledge of this disease and emphasize several key discoveries and technologies that are offering unique opportunities for future research and potential breakthroughs.


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MAR 20, 2014 7:00 AM PDT

Huntingtons Disease: Twenty years and counting



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