BMI Seminar // Huntington’s disease: from gene identification to gene therapy
Event details
| Date | 15.05.2013 |
| Hour | 12:15 › 13:15 |
| Speaker |
Nicole Déglon Laboratory of Cellular and Molecular Neurotherapies Neuoligie, Faculté de biologie et médecine, Lausanne, Switzerland |
| Location |
SV1717A
|
| Category | Conferences - Seminars |
Abstract
Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder disease that affects 1 in 10,000 adults. The symptoms, which include progressive motor, psychiatric and cognitive dysfunctions, are associated with the degeneration of the major population of striatal neurons, the GABAergic spiny projection neurons. In 1983, the huntingtin (HTT) gene was the first disease gene mapped to a specific chromosome. Ten years later the precise nature of the HD-associated mutation was identified as an expansion of CAG repeats in the HTT gene. Despite intensive efforts devoted to investigating the mechanisms of its pathogenesis, effective treatments for this devastating disease remain unavailable. Disease-modifying treatments are being investigated that may lead to disease-altering therapies. However, the most attractive strategy for the treatment of HD is certainly RNAi. Gene-silencing techniques that target polyglutamine-encoding mRNA and block or reduce the production of mutant Htt protein, have the potential to halt or, at least, delay neuronal death and therefore constitute a promising strategy for HD. Recent data providing evidence of the therapeutic potential, as well as advantages and limitations of non allele- or allele-specific RNAi for HD will be presented.
Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder disease that affects 1 in 10,000 adults. The symptoms, which include progressive motor, psychiatric and cognitive dysfunctions, are associated with the degeneration of the major population of striatal neurons, the GABAergic spiny projection neurons. In 1983, the huntingtin (HTT) gene was the first disease gene mapped to a specific chromosome. Ten years later the precise nature of the HD-associated mutation was identified as an expansion of CAG repeats in the HTT gene. Despite intensive efforts devoted to investigating the mechanisms of its pathogenesis, effective treatments for this devastating disease remain unavailable. Disease-modifying treatments are being investigated that may lead to disease-altering therapies. However, the most attractive strategy for the treatment of HD is certainly RNAi. Gene-silencing techniques that target polyglutamine-encoding mRNA and block or reduce the production of mutant Htt protein, have the potential to halt or, at least, delay neuronal death and therefore constitute a promising strategy for HD. Recent data providing evidence of the therapeutic potential, as well as advantages and limitations of non allele- or allele-specific RNAi for HD will be presented.
Practical information
- Informed public
- Free
Organizer
- SV-BMI
Host : Prof. D. Moore