CENTER GRANT FOR RESEARCH IN MENTAL RETARDATION

本申请是为了继续支持行政和 BF Stolinsky实验室精神发育迟滞的研究核心 科罗拉多大学健康科学中心研究中心。这 MRRC于1968年开始运作，其大多数调查人员和核心人员 现在被安置在UCHSC校园的一个新的和更大的设施。的 所有使用岩心的研究人员的研究 关于智力迟钝和发育障碍的研究。家的活大部分 是关于中枢神经系统功能障碍的遗传原因， 主要关注先天性代谢缺陷，特别是 of mitochondria线粒体.此外，我们亦致力改善环境。 MRDD的原因，包括微量金属缺乏和病毒感染， 以及这些情况如何影响神经心理学过程和认知 发展 中枢神经系统遗传（代谢）病因的研究 功能障碍集中于I型和II型谷氨酸血症（Goodman和Frerman）， 胱硫醚β-合酶缺乏症（Kraus），丙酸血症 （Kraus）和唐氏综合征（Patterson &加德纳））; 这些研究是为了更好地了解发病机制，以便努力 治疗可以有一个更科学的理由。环境研究 MRRD的原因检查了婴儿期锌缺乏的影响， 妊娠期（Krebs）和新生儿期潜伏病毒感染 （Crnic）关于随后的认知。其他人专注于发展（学习） 精神分裂症（Ross，伦纳德）、诵读困难、注意力障碍 缺陷多动障碍和自闭症（Rogers &彭宁顿;早期 人CNS的神经元发育中的事件（Pfenninger）;以及 与钠通道有关的神经肌肉缺陷（考德威尔）。核心 寻求支助的设施包括：a）行政，B）牢房 生物学，c）化学/质谱，e）大插入库 筛选，f）发育神经心理学，g）动物饲养和 评估，及h）仪器维修及玻璃器皿清洗服务。 核心e）对于本申请是新的。我们还建议与 贝勒医学院的MRRC，在每个研究中心的研究人员 研究所可以相互学习技术，在某些情况下， 利用彼此的核心。

This application is for continued support of the administrative and research cores of the BF Stolinsky Laboratories Mental Retardation Research Center at the University of Colorado Health Sciences Center. This MRRC began its operations in 1968, and most of its investigators and core are now housed in a new and larger facility on the UCHSC campus. The research of all investigators that utilize the cores impacts substantially on mental retardation and developmental disabilities. Most of their work is on heritable cause of central nervous system dysfunction, with a primary focus on inborn errors of metabolism and specifically on disorders of mitochondria. Substantial effort is also directed to environmental causes of MRDD, including trace metal deficiencies and viral infections, and how these conditions affect neuropsychological processes and cognitive development. Studies on genetic (metabolic) causes of central nervous system dysfunction focus on glutaric acidemia type I and II (Goodman & Frerman), cystathionine beta-synthase deficiency (Kraus), propionic acidemia (Kraus), and Down syndrome (Patterson & Gardiner)); the primary aim of these studies is to better understand pathogenesis, so that efforts to treat can have a more science-based rationale. Studies of environmental causes of MRRD examine the impact of zinc deficiency in infancy and gestation (Krebs), and of latent viral infections in the newborn period (Crnic) on subsequent cognition. Others focus on developmental (learning) disorders such as schizophrenia (Ross, Leonard), dyslexia, attention deficit hyperactivity disorder, and autism (Rogers & Pennington; early events in neuronal development of the human CNS (Pfenninger); and neuromuscular defects related to sodium channels (Caldwell). Core facilities for which support is sought include: a) administration, b) Cell Biology, c) Chemistry/Mass Spectrometry, e) Large Insert Library Screening, f) Developmental Neuropsychology, g) Animal Housing and Assessment, and h) Instrument maintenance and Glassware Washing services. Core e) is new to this application. We also propose an association with the MRRC at Baylor College of Medicine, in which investigators at each institute can learn techniques from one another and, in some cases, utilize each others cores.