BABOON MODEL FOR GENETICS OF HUMAN GENERALIZED EPILEPSY

人类全身性癫痫遗传学的狒狒模型

• 批准号: 7716067
• 负责人: Jeff Williams
• 金额: $ 1.39万
• 依托单位: TEXAS BIOMEDICAL RESEARCH INSTITUTE
• 依托单位国家: 美国
• 财政年份: 2008
• 资助国家: 美国
• 起止时间: 2008-05-01 至 2009-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7716067
• 关键词: Affect; Animal Model; Animals; Biochemical Pathway; Clinical; Computer Retrieval of Information on Scientific Projects Database; Development; Epilepsy; Funding; Generalized Epilepsy; Genes; Genetic Models; Genotype; Goals; Grant; Human; Human Genetics; Hybrids; Institution; Intervention; Juvenile Myoclonic Epilepsy; Modeling; Neurons; Papio; Papio anubis; Papio cynocephalus; Papio hamadryas; Photic Stimulation; Physiological; Research; Research Personnel; Resources; Seizures; Source; Syndrome; United States National Institutes of Health; Variant; genetic pedigree; nonhuman primate; novel

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The red baboon (Papio hamadryas papio) was first explored more than thirty years ago as a nonhuman primate model of primary generalized epilepsy in humans, and remains one of the best characterized electroclinical animal models for juvenile myoclonic epilepsy. Epilepsy is easily studied in the baboon because these animals are highly susceptible to photic stimulation to provoke neuronal discharges and seizures that are sensitive markers of their epileptic syndrome. The goal of this project is to develop additional species of baboon (P.h. anubis [olive baboon], P.h. cynocephalus [yellow baboon], and their hybrids) as a nonhuman primate model for the genetics of primary generalized epilepsy in humans. Using the large, genotyped baboon pedigree at SNPRC we will seek genes that significantly affect variation in the clinical and electroencephalographic features of epilepsy in baboons and are therefore likely to be relevant in human epilepsy. Identification of genes involved in the epilepsy syndrome will implicate specific physiological and biochemical pathways that can be targeted for intervention, and potentially contribute to improvements in existing treatments for epilepsy and the development of novel therapies.

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 30多年前，作为人类原发全面性癫痫的非人灵长类动物模型，红狒狒(Papio Hamadryas Papio)首次被发现，至今仍是青少年肌阵挛癫痫最具特征的电临床动物模型之一。在狒狒身上很容易研究癫痫，因为这些动物对光刺激非常敏感，可以激发神经元放电和癫痫发作，而这些都是它们癫痫综合征的敏感标志。该项目的目标是开发更多种类的狒狒(P.H.阿努比斯[橄榄狒狒]，P.H.作为人类原发全面性癫痫遗传学的非人类灵长类动物模型。利用SNPRC的大的、基因分型的狒狒家系，我们将寻找显著影响狒狒癫痫临床和脑电特征变异的基因，因此很可能与人类癫痫相关。癫痫综合征相关基因的识别将涉及特定的生理和生化途径，可作为干预的靶点，并可能有助于改进现有的癫痫治疗方法和开发新的治疗方法。