Mechanisms of Disease and Treatments in Novel Metabolic Development Brain Disorders

新型代谢发育脑疾病的疾病机制和治疗

基本信息

  • 批准号:
    10622084
  • 负责人:
  • 金额:
    $ 2.8万
  • 依托单位:
  • 依托单位国家:
    美国
  • 项目类别:
  • 财政年份:
    2022
  • 资助国家:
    美国
  • 起止时间:
    2022-07-01 至 2023-06-30
  • 项目状态:
    已结题

项目摘要

PROJECT SUMMARY We have recently identified a novel human neurogenetic disorder caused by loss-of-function mutations in the mitochondrial enzyme glutamate pyruvate transaminase 2 (GPT2). Genetic metabolic diseases, such as GPT2 disease, offer a powerful lens to investigate mechanisms of metabolism in human brain. Also, metabolic diseases may be amenable to treatments via dietary restrictions or supplements. GPT2 disease involves postnatal undergrowth of brain and progressive spastic paraplegia. Based on our extensive preliminary data, we have established potential treatment strategies for GPT2 disease. To guide these interventions in children, we are currently completing needed pre-clinical studies under the awarded parent grant “Mechanisms of disease and treatment in novel metabolic developmental brain disorders 1R01NS121618-01A1”. This application represents a request for supplemental funding to support the post-baccalaureate training of Mr. Kenneth Bradley. Mr. Bradley is a recent Brown University graduate and will be a research assistant working on projects under the scope of the parent grant within the Morrow Laboratory. Mr. Bradley will work primarily on training and conducting studies related to Aim 1 of this project, since Mr. Bradley is specifically interested in neurogenetics and motor behavior in neurodevelopmental and neurodegenerative conditions. Aim 1 is focused on in vivo studies of Gpt2-mediated growth of motor neurons. Our Gpt2-null mouse recapitulates key aspects of disease, such as hindlimb motor abnormalities, akin to spastic paraplegia seen in patients. This supplement outlines research and training plans that will build-upon Mr. Bradley’s existing skillset, and that will dovetail with his scientific interests going forward. In addition to learning mammalian genetics, neurodevelopment and the laboratory techniques of histology, microscopy and behavior assays, Mr. Bradley will be provided with a mentorship on career development from multiple mentors and supervisors, will attend a conference, and receive training in data analysis and manuscript preparation. Taken together, these experiences will assist Mr. Bradley as he prepares for the next phase of his career in the biomedical workforce. Page 41 of 55
项目总结 我们最近发现了一种新的人类神经遗传学疾病,由功能丧失突变引起 线粒体酶谷丙转氨酶2(GPT2)。遗传性代谢性疾病,如GPT2 疾病,为研究人类大脑的新陈代谢机制提供了一个强大的透镜。此外,新陈代谢 疾病可以通过饮食限制或补充剂进行治疗。GPT2疾病涉及 出生后脑发育不足和进行性痉挛截瘫。根据我们广泛的初步数据,我们 已经为GPT2疾病制定了潜在的治疗策略。为了指导对儿童的这些干预,我们 目前正在完成所需的临床前研究,这项研究是在父母授予的“疾病机制”资助下进行的 和治疗新陈代谢发育性大脑疾病1R01NS121618-01A1“。此应用程序 申请补充资金,以支持Kenneth Bradley先生毕业后的培训。 布拉德利先生是布朗大学的应届毕业生,他将担任研究助理,从事 莫罗实验室内父母资助的范围。布拉德利先生将主要致力于培训和 进行与本项目目标1相关的研究,因为布拉德利先生对神经遗传学特别感兴趣 以及神经发育和神经退行性疾病时的运动行为。AIM 1专注于体内研究 Gpt2介导的运动神经元生长研究。我们的Gpt2缺失小鼠概括了疾病的关键方面, 例如后肢运动异常,类似于患者中出现的痉挛截瘫。本副刊概述了 将建立在布拉德利现有技能基础上的研究和培训计划,这将与他的 未来的科学利益。除了学习哺乳动物遗传学、神经发育和 组织学、显微镜和行为分析的实验室技术,布拉德利先生将获得 来自多位导师和主管的职业发展指导,将参加一个会议,并接受 数据分析和稿件准备方面的培训。总而言之,这些经验将有助于布拉德利先生 他正在为他在生物医学领域的下一阶段职业生涯做准备。 第41页,共55页

项目成果

期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)

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Eric M Morrow其他文献

Postictal psychosis: presymptomatic risk factors and the need for further investigation of genetics and pharmacotherapy
  • DOI:
    10.1186/1744-859x-5-9
  • 发表时间:
    2006-07-21
  • 期刊:
  • 影响因子:
    3.100
  • 作者:
    Eric M Morrow;Jennifer M Lafayette;Edward B Bromfield;Gregory Fricchione
  • 通讯作者:
    Gregory Fricchione

Eric M Morrow的其他文献

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{{ truncateString('Eric M Morrow', 18)}}的其他基金

Mechanisms of disease and treatment in novel metabolic developmental brain disorders
新型代谢性发育性脑疾病的疾病机制和治疗
  • 批准号:
    10375639
  • 财政年份:
    2021
  • 资助金额:
    $ 2.8万
  • 项目类别:
Mechanisms of Disease and Treatment in Novel Metabolic Developmental Brain Disorders
新型代谢性发育性脑疾病的疾病机制和治疗
  • 批准号:
    10527375
  • 财政年份:
    2021
  • 资助金额:
    $ 2.8万
  • 项目类别:
Mechanisms of disease and treatment in novel metabolic developmental brain disorders
新型代谢性发育性脑疾病的疾病机制和治疗
  • 批准号:
    10712302
  • 财政年份:
    2021
  • 资助金额:
    $ 2.8万
  • 项目类别:
Mechanisms of Disease and Treatment in Novel Metabolic Developmental Brain Disorders
新型代谢性发育性脑疾病的疾病机制和治疗
  • 批准号:
    10745757
  • 财政年份:
    2021
  • 资助金额:
    $ 2.8万
  • 项目类别:
Neurodegenerative mechanisms in Christianson syndrome and NHE6-related disorders
Christianson 综合征和 NHE6 相关疾病的神经退行性机制
  • 批准号:
    9811045
  • 财政年份:
    2019
  • 资助金额:
    $ 2.8万
  • 项目类别:
Neurodegenerative Mechanisms in Christianson Syndrome and NHE6-Related Disorders
Christianson 综合征和 NHE6 相关疾病的神经退行性机制
  • 批准号:
    10417212
  • 财政年份:
    2019
  • 资助金额:
    $ 2.8万
  • 项目类别:
Neurodegenerative mechanisms in Christianson syndrome and NHE6-related disorders
Christianson 综合征和 NHE6 相关疾病的神经退行性机制
  • 批准号:
    10020810
  • 财政年份:
    2019
  • 资助金额:
    $ 2.8万
  • 项目类别:
Neurodegenerative Mechanisms in Christianson Syndrome and NHE6-Related Disorders
Christianson 综合征和 NHE6 相关疾病的神经退行性机制
  • 批准号:
    10653694
  • 财政年份:
    2019
  • 资助金额:
    $ 2.8万
  • 项目类别:
Neurodegenerative Mechanisms in Christianson Syndrome and NHE6-Related Disorders
Christianson 综合征和 NHE6 相关疾病的神经退行性机制
  • 批准号:
    10213154
  • 财政年份:
    2019
  • 资助金额:
    $ 2.8万
  • 项目类别:
Neurodegenerative mechanisms in Christianson syndrome and NHE6-related disorders
Christianson 综合征和 NHE6 相关疾病的神经退行性机制
  • 批准号:
    10164658
  • 财政年份:
    2019
  • 资助金额:
    $ 2.8万
  • 项目类别:

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