Baylor Intellectual and Developmental Disabilities Research Centers

 描述(申请人提供)：贝勒医学院智力和发育障碍研究中心(BCM IDDRC)成立于1988年8月1日，并一直得到持续资助，上一次资金更新是在2009年7月1日。BCM IDDRC致力于推进智力和发育障碍(IDD)的研究，以解决IDD患者及其家庭遇到的问题。具体地说，BCM IDDRC的使命是确定尽可能多的智力和发育障碍的原因，了解调节这些障碍的机制，预防这些障碍，并提供干预措施，以提高受影响个人的生活质量，尽可能改善他们的残疾。其具体目标是：1)通过鼓励和集中在病因、诊断、预防、发病机制和治疗IDD疗法的开发方面的研究努力，加强BCM的IDD研究活动；2)开发和提供创新和关键的核心设施，以加强BCM的IDD研究；3)通过改善中心研究人员之间的互动和招募新的研究人员进入IDD研究领域，促进多学科的IDD研究方法；以及4)促进与BCM以外对IDD研究和治疗表现出重大承诺的研究人员的科学和合作互动。BCM IDDRC围绕发现IDD的遗传和基因组基础、开发IDD的疾病模型、进行IDD的详细发病机制研究以及开发IDD的新疗法等主要主题而构建。BCM IDDRC的使命和目标将通过提供创新的、重要的和具有成本效益的研究核心服务来实现，以支持与IDDRC的使命、目标和目标相一致的高质量调查人员和研究项目。BCM IDDRC提出了A)管理核心，B)临床翻译核心，C)啮齿动物神经行为核心，D)包括神经病理学、共聚焦和原位RNA的神经可视化核心，以及(E)包括病毒生产、光遗传学和体内生理学的神经连接核心。此外，BCM IDDRC还将支持一项创新的临床前研究项目，题为“针对Angelman综合征的父系基因激活疗法的步骤”，该项目将为这种神经发育障碍开发新的、基于基因的治疗方法。这些核心资源将支持45名研究人员和56个NIH资助的研究项目。在过去的25年里，BCM IDDRC在促进发现IDD的病因、确定IDD的病理生理学和开发IDD的治疗方法方面取得了显著的成功。正在进行的资金将使该中心能够继续支持和扩大BCM的这些努力。

 DESCRIPTION (provided by applicant): The Baylor College of Medicine Intellectual and Developmental Disabilities Research Center (BCM IDDRC) was established August 1, 1988, and has been continuously funded with the last renewal of funding July 1, 2009. The BCM IDDRC is committed to advancing research in intellectual and developmental disabilities (IDD) to address the problems encountered by individuals with IDD and their families. Specifically, the mission of the BCM IDDRC are to identify as many causes of intellectual and developmental disability as possible, to understand the mechanisms mediating these disorders, to prevent these disorders, and to provide interventions that can improve the quality of life of affected individuals and ameliorate their disability whenever possible. The specific objectives are: 1) To enhance IDD research activities at BCM by encouraging and focusing research efforts on etiology, diagnosis, prevention, mechanism of pathogenesis, and the development of therapies to treat IDD, 2) To develop and provide innovative and critical core facilities to enhance IDD research at BCM, 3) To promote a multidisciplinary approach to IDD research by improving interactions between Center investigators and recruiting new investigators into the field of IDD research, and 4) To promote scientific and collaborative interactions with investigators outside BCM who have demonstrated a major commitment to study and treat IDD. The BCM IDDRC is structured around the major themes of discovering the genetic and genomic basis of IDD, developing disease models of IDD, performing detailed pathogenesis studies of IDD, and developing novel therapies for IDD. The mission and goals of the BCM IDDRC will be accomplished by providing innovative, important, and cost-effective research core services to support high quality investigators and research projects aligned with the mission, goals, and objectives of the IDDRC. The BCM IDDRC proposes A) an Administrative Core, B) a Clinical Translational Core, C) a Rodent Neurobehavioral Core, D) a Neurovisualization Core which includes Neuropathology, Confocal, and RNA in situ, and (E) a Neuroconnectivity Core which includes Viral Production, Optogenetics, and In vivo Physiology. Additionally, the BCM IDDRC will support an innovative preclinical research project entitled "Steps towards a paternal gene activation therapy for Angelman syndrome" that will develop novel, genetically based treatments for that neurodevelopmental disorder. These core resources will support 45 investigators and 56 NIH funded research projects. Over the last 25 years the BCM IDDRC has been remarkably successful in fostering the discovery of the causes of IDD, determining the pathophysiology of IDD, and developing treatments for IDD. Ongoing funding will allow the Center to continue to support and expand these efforts at BCM.