CORE--BIOMEDICAL ASSESSMENT

核心--生物医学评估

• 批准号: 6202064
• 负责人: ARTHUR L. BEAUDET
• 金额: $ 12.73万
• 依托单位: BAYLOR COLLEGE OF MEDICINE
• 依托单位国家: 美国
• 财政年份: 1999
• 资助国家: 美国
• 起止时间: 1999-09-11 至 2000-09-10
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6202064
• 关键词: Friedreich's ataxia; Rett syndrome; biomedical facility; child (0-11); clinical research; congenital infection; cytogenetics; cytomegalovirus; developmental neurobiology; disease /disorder proneness /risk; fluorescent in situ hybridization; genetic disorder; genetic mapping; happy puppet syndrome; human genetic material tag; human subject; mental disorder diagnosis; mental retardation; molecular genetics; nucleic acid probes; pediatric AIDS; polymerase chain reaction; southern blotting

DESCRIPTION: The objective of Core B1 is to provide developmentally based patient evaluations for persons enrolled in MRRC studies. These evaluations will be performed at the Meyer Center for Developmental Pediatrics, a unit operated collaboratively by Baylor College of Medicine and Texas Children's Hospital. This core will provide routine service in cases where billing is not feasible and more specialized evaluations are required for investigative purposes. The five major areas of investigation to which this core has contributed include studies of developmental outcomes following high-risk birth, the effects of CMV, measurement of mediation efficacy in treatment for AIDS, neurodevelopmental effects on dietary intake of polyunsaturated fatty acids, and clarification of the phenotypes of various genetic disorders. Eleven projects will use this core, including a number of studies of genetic syndromes, CMV, head injury, and AIDS. The cytogenetics core laboratory will perform classical cytogenetics on patients recruited in the research projects of MRRC investigators, and FSH mapping of genes or DNA markers. A total of 12 projects will require the services of this core facility. The Biochemical Genetics Laboratory provides testing for patients with inborn errors of metabolism. A small proportion of patients with mental retardation have single gene metabolic disorders that can be diagnosed by screening markers such as amino acids, organic acids, sugars, and mucopolysaccharides, etc. A second function of this core is to help investigators involved in mouse gene disruption by performing measurements of biochemical markers such as amino acids and organic acids as well as enzymatic assays. A third function is to perform follow up testing in patients with urea cycle disorders who would be receiving gene therapy. Hence, this is a metabolic markers screening and enzyme analysis laboratory which will be available for investigators of the MRCC.

描述：核心B1的目的是提供基于发展的 对参加MRRC研究的人的患者评估。这些 评估将在迈耶发展中心进行 儿科，由贝勒医学院合作运作的单位 和德克萨斯儿童医院。该核心将在 计费不可行且更专业评估的情况是 为了调查目的所需。调查的五个主要领域 该核心的贡献包括发展的研究 高风险出生后的结果，CMV的影响，测量 辅助治疗的调解功效，神经发育对 多不饱和脂肪酸的饮食摄入，并澄清 各种遗传疾病的表型。 11个项目将使用此 核心，包括许多遗传综合征，CMV，头部的研究 受伤和艾滋病。 细胞遗传学核心实验室将在 在MRRC研究人员和FSH的研究项目中招募的患者 基因或DNA标记的映射。共有12个项目需要 此核心设施的服务。 生化遗传学实验室为患者提供了测试 天生的新陈代谢错误。一小部分心理患者 迟钝具有单基因代谢疾病，可以诊断 筛选标记物，例如氨基酸，有机酸，糖和 粘多糖等。该核心的第二个功能是帮助 通过进行测量来涉及小鼠基因破坏的研究者 诸如氨基酸和有机酸等的生化标志物以及 酶试验。第三个功能是执行后续测试 将接受基因疗法的尿素周期疾病的患者。 因此，这是一种代谢标记筛选和酶分析 实验室将用于MRCC的调查人员。