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Evaluating AAV-mediated gene replacement for Spinal Muscular Atrophy with Respiratory Distress 1

Evaluating AAV-mediated gene replacement for Spinal Muscular Atrophy with Respiratory Distress 1
评估 AAV 介导的基因替换对伴有呼吸窘迫的脊髓性肌萎缩症 1
批准号:
9034843
负责人:
Christian L. Lorson
金额:
$22.22万
依托单位国家:
美国
项目类别:
财政年份:
2015
资助国家:
美国
项目状态:
已结题
起止时间:
2015-09-01 至 2017-08-31

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英文摘要
 DESCRIPTION (provided by applicant): Spinal Muscular Atrophy with Respiratory Distress 1 (SMARD1) or Distal Spinal Muscular Atrophy (DSMA1) is a fatal autosomal recessive genetic disorder that is the second most common motor neuron disease in children. To date, no effective therapies or treatments exist for SMARD1. However, SMARD1 is an ideal candidate for vector-based gene therapy since it is monogenic and an animal model exists that reasonably recapitulates important features of disease. The gene responsible for SMARD1 is immunoglobulin µ-binding protein 2 (IGHMBP2). IGHMBP2 encodes a 993 amino acid protein that exhibits DNA/RNA helicase and ATPase activity, however, its normal and disease related functions are not well understood. While IGHMBP2 is ubiquitously expressed, motor neurons are a primary tissue in disease development, resulting in a pronounced wasting of skeletal muscle including the diaphragm. Recent advances in vector-based gene delivery in related areas such as Spinal Muscular Atrophy (or proximal SMA; 5q-linked SMA) have demonstrated that Adeno Associated Virus (AAV) vectors can efficiently enter a broad range of tissues within the central nervous system and the periphery, thereby effectively restoring expression of the disease gene. This proposal is designed to examine the utility of gene replacement as well as provide insight into disease development.
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Improvements to the Regional Biocontainment Research Facilities at the University of Missouri
  • 批准号:
    10394455
  • 项目类别:
  • 资助金额:
    $332.73万
  • 财政年份:
    2021
  • 负责人:
    Christian L. Lorson
  • 依托单位:
Improvements to the Regional Biocontainment Research Facilities at the University of Missouri
  • 批准号:
    10631453
  • 项目类别:
  • 资助金额:
    $234.07万
  • 财政年份:
    2021
  • 负责人:
    Christian L. Lorson
  • 依托单位:
Novel SMARD1 Mouse Models: Characterization and Evaluation of Potential Therapeutic Targets
  • 批准号:
    10558457
  • 项目类别:
  • 资助金额:
    $34.77万
  • 财政年份:
    2020
  • 负责人:
    Christian L. Lorson
  • 依托单位:
Novel SMARD1 Mouse Models: Characterization and Evaluation of Potential Therapeutic Targets
  • 批准号:
    10333249
  • 项目类别:
  • 资助金额:
    $34.77万
  • 财政年份:
    2020
  • 负责人:
    Christian L. Lorson
  • 依托单位:
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