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
项目摘要 我们最近发现了一种新的人类神经遗传性疾病,其由以下基因的功能缺失突变引起: 线粒体酶谷氨酸丙酮酸转氨酶2(GPT 2)。遗传代谢疾病,如GPT 2 疾病,提供了一个强大的透镜,研究代谢机制,在人类大脑。此外,代谢 疾病可以通过饮食限制或补充剂进行治疗。GPT 2疾病涉及 出生后大脑发育不良和进行性痉挛性截瘫。根据我们广泛的初步数据,我们 已经为GPT 2疾病建立了潜在的治疗策略。为了指导这些儿童干预措施,我们 目前正在完成所需的临床前研究下授予家长赠款“机制的疾病 和新型代谢发育性脑部疾病的治疗1 R 01 NS 121618 - 01 A1”。本申请 要求提供补充资金,以支持Kenneth布拉德利先生的学士后培训。 先生布拉德利是布朗大学的一名应届毕业生,他将成为一名研究助理,从事 Morrow实验室内的母基金范围。布拉德利先生将主要从事培训工作, 由于布拉德利先生对神经遗传学特别感兴趣,因此我将开展与本项目目标1相关的研究 以及神经发育和神经变性病症中的运动行为。目标1专注于体内 Gpt 2介导的运动神经元生长的研究。我们的Gpt 2-null小鼠重现了疾病的关键方面, 例如后肢运动异常,类似于患者中所见的痉挛性截瘫。本补充文件概述了 研究和培训计划,将建立在布拉德利先生现有的技能,这将符合他的 科学兴趣向前发展。除了学习哺乳动物的遗传学,神经发育和 组织学、显微镜检查和行为测定的实验室技术,将为布拉德利先生提供 来自多位导师和主管的职业发展导师,将参加会议并获得 数据分析和文稿准备方面的培训。综合起来,这些经验将有助于布拉德利先生 因为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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