Developing Gene Silencing for the Study and Treatment of Dystonia

Abstract

Dystonia is a debilitating neurological disease with no cure. In dystonia, there are involuntary muscle contractions that cause abnormal twisting postures. DYT1 dystonia is an autosomal dominant disease with onset of dystonia during childhood. The most common early onset inherited dystonia, DYT1 is caused by a common deletion of a single amino acid (E) in torsinA. There is abundant evidence suggesting that suppressing expression of torsinA(E) through gene silencing techniques would be beneficial. We have already achieved this goal in cultured cells through RNA interference (RNAi) and antisense oligonucleotides (ASO).

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Document Details

Document Type
Technical Report
Publication Date
Nov 01, 2015
Accession Number
AD1000357

Entities

People

  • Pedro Gonzalez-alegre

Organizations

  • Children's Hospital of Philadelphia

Tags

DTIC Thesaurus Topics

  • Alzheimer Disease
  • Amino Acids
  • Anatomy
  • Antisense Elements (Genetics)
  • Biological Sciences
  • Biomedical Research
  • Brain
  • Demographic Cohorts
  • Diseases And Disorders
  • Gene Therapy
  • Genes
  • Genetics
  • Health Services
  • Medical Personnel
  • Movement Disorders
  • Neurodegeneration
  • Therapy

Fields of Study

  • Medicine

Readers

  • Manufacturing Engineering.
  • Molecular Genetics
  • Molecular and genetic basis of cancer.