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中文摘要
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项目摘要 X连锁肌张力障碍帕金森综合征(XDP)是一种影响男性的神经退行性疾病 其母亲来自菲律宾班乃岛。由于相对 XDP患者生活的孤立地区,以及疾病本身的罕见性, 关于自然历史的数据目前是可用的。此应用程序的目标是 巩固已经建立的自然历史研究和收藏合作 DNA和其他生物液体。自然史研究对于理解 罕见疾病的病因、表现范围和进展。生物标本是 这对于在分子和细胞水平上理解潜在的病理学至关重要。在 此外,菲律宾的研究人员将接受临床研究培训, 方法论在美国。培训将提高他们的指挥能力 菲律宾XDP的独立研究。
英文摘要
Project Summary X-linked dystonia Parkinsonism (XDP) is a neurodegenerative disease that affects men whose mothers originate from the island of Panay, Philippines. Due to the relatively isolated region in which those with XDP live, and the rarity of the disease itself, limited data regarding the natural history is currently available. The goal of this application is to solidify an already established collaboration for a natural history study and the collection of DNA and other biological fluids. Natural history studies are important for understanding the etiology, range of manifestations and progression of a rare disease. Biospecimens are crucial to understand the underlying pathology at both the molecular and cellular level. In addition, investigators in the Philippines will undergo training in clinical research methodology in the United States. The training will improve their ability to conduct independent research on XDP in the Philippines.
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Genetic Variants in Craniofacial Dystonias
  • 批准号:
    10364887
  • 项目类别:
  • 资助金额:
    $61.88万
  • 财政年份:
    2022
  • 负责人:
    NUTAN SHARMA
  • 依托单位:
Genetic Variants in Craniofacial Dystonias
  • 批准号:
    10686185
  • 项目类别:
  • 资助金额:
    $60.18万
  • 财政年份:
    2022
  • 负责人:
    NUTAN SHARMA
  • 依托单位:
Natural history study of x-linked Dystonia Parkinsonism
  • 批准号:
    10181089
  • 项目类别:
  • 资助金额:
    $21.0万
  • 财政年份:
    2020
  • 负责人:
    NUTAN SHARMA
  • 依托单位:
FOCAL DYSTONIA: GENOTYPE-PHENOTYPE CORRELATION
  • 批准号:
    7731292
  • 项目类别:
  • 资助金额:
    $0.15万
  • 财政年份:
    2008
  • 负责人:
    NUTAN SHARMA
  • 依托单位:
海外基金