MRDD Research Center

描述[由申请人提供]：科罗拉多大学智力迟钝和发育障碍研究中心为MRDD的综合研究项目申请9个核心（8个已资助，1个提议）的支持。中心的研究优势包括几个主题。第一个是先天性代谢错误的研究，包括本中心发现的戊二酸I型和II型，丙二酸学术和同型半胱氨酸尿。第二个优势领域是探索导致单基因和多基因疾病的基因：自闭症、唐氏综合征、脆性X染色体综合征、阅读障碍、注意力缺陷多动障碍和精神分裂症。第三组试图了解非常年幼的自闭症儿童的表型和核心缺陷，以及自闭症与脆性X染色体综合征之间的相互关系。确定各种这些疾病的神经心理学是拟议中心的第四个优势。研究人员将利用广泛的调查技术来解决这些重要问题，从人类情感发展的研究，通过使用动物模型的解剖学和行为学研究，到对基因调控的非常基本的分子理解，再到解决酶的晶体结构。支持这项研究的核心包括组织培养、分子生物学、质谱学、蛋白质组学和分析化学、发育神经心理学、动物住房和评估以及研究支持服务。在上一个资助周期中，研究人员启动了酶和分子诊断核心，该核心在支持中心研究人员的研究方面非常成功。此外，研究人员已经启动了一个新的设施，人类受试者招募和评估核心。科罗拉多中心得到了科罗拉多大学各级的大力支持，并期待着在新校园的新时代，基础科学家，临床研究人员和所有临床设施将首次统一起来。邻近的生物技术园区将促进中心的研究成果转化为治疗方法。研究人员被选为第一批搬到新校区的研究人员，他们的空间经过精心设计，以满足作为中心的需求，并使中心的研究人员接近其他小组，如人类分子遗传学，这可以加强中心的科学互动。战略规划使研究人员开始了一系列的招聘，主要是在基础神经科学领域，并大大增强了核心。

DESCRIPTION [provided by applicant]: The University of Colorado Mental Retardation and Developmental Disabilities Research Center requests support for nine cores (eight previously funded and one proposed) for a comprehensive research program on MRDD. The research strengths of the Center encompass several themes. The first is studies in inborn errors of metabolism, including glutaric acidemic types I and II that were discovered at this Center, propronic academia, and homocystinuria. The second area of strength is in exploring the genes responsible for single and multigene disorders: autism, Down syndrome, fragile X syndrome, dyslexia, attention deficit hyperactivity disorder, and schizophrenia. A third group seeks to understand the phenotype and core deficits in very young children with autism and the inter-relationship between autism and fragile X syndrome. Determination of the neuropsychology of a variety of these disorders is a fourth strength of the proposed Center. The investigators will utilize a wide range of investigative techniques to approach these important problems, from studies of emotional development in humans, through the use of anatomic and behavioral studies of animal models, to very basic molecular understanding of gene regulation, to solving of the crystal structure of enzymes. The cores that support this research include Tissue Culture, Molecular Biology, Mass Spectrometry, Proteomics, and Analytical Chemistry, Developmental Neuropsychology, Animal Housing and Assessment, and Research Support Services. With the last funding cycle, the investigators initiated an Enzyme and Molecular Diagnosis Core that has been extremely successful in supporting the research of Center investigators. In addition, the investigators have started a new facility, the Human Subjects Recruitment and Evaluation Core. The Colorado Center has received substantial support from all levels of the University of Colorado and looks forward to a new era on a new campus, in which basic scientists, clinical investigators, and all clinical facilities will be united for the first time. An adjacent biotechnology park will facilitate the translation of Center findings into treatments. The investigators have been chosen to be in the first group of researchers to move to the new campus, and their space has been carefully designed to meet the needs as a center, and to put the Center investigator into proximity to other groups, such as Human Molecular Genetics, that can enhance Center scientific interactions. Strategic planning has led the investigators to initiate a series of hires, principally in basic neurosciences, and has led to considerable enhancement of cores.