Intellectual and Developmental Disabilities Research Center

智力与发育障碍研究中心

• 批准号: 9923950
• 负责人: Michael J Guralnick
• 金额: $ 130万
• 依托单位: UNIVERSITY OF WASHINGTON
• 依托单位国家: 美国
• 财政年份: 2014
• 资助国家: 美国
• 起止时间: 2014-09-23 至 2020-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9923950
• 关键词: Animal Behavior; Animal Model; Area; Behavioral; Brain imaging; Clinical; Consultations; Development; Diagnosis; Disease; Epilepsy; Evaluation; Genetic; Hearing problem; Human; Human Development; Individual; Intellectual functioning disability; Joubert syndrome; Leadership; Learning Disabilities; Mental Retardation and Developmental Disabilities Research Centers; Modeling; Mus; Phase; Phenotype; Positioning Attribute; Research; Research Design; Research Personnel; Research Project Grants; Research Support; Research Training; Resources; Scientist; Study models; Testing; Translational Research; Universities; Washington; Work; autism spectrum disorder; base; behavior test; brain malformation; central nervous system injury; design; developmental toxicology; disability; effective therapy; human genomics; human imaging; in vivo imaging; nonhuman primate; prevent; programs; public health relevance; research data dissemination

 DESCRIPTION (provided by applicant): The University of Washington Eunice Kennedy Shriver Intellectual and Developmental Disabilities Research Center (IDDRC), based at the Center on Human Development and Disability (CHDD), provides a comprehensive interdisciplinary program of research designed to prevent, diagnose, and treat individuals with intellectual and developmental disabilities (IDD). Research is carried out within the framework of the following 8 Collaborative Research Areas (CRAs): (1) Autism and Related Disorders; (2) Brain Malformation Disorders; (3) Central Nervous System Injury; (4) Developmental Toxicology; (5) Environmental Influences and Behavioral Development; (6) Epilepsy; (7) Hearing Disorders, and (8) Learning Disabilities. All CRAs are interdisciplinary, include scientists and clinicians, and are designed to promote translational research. In this application, to facilitate the work of investigators at our IDDRC, we are requesting support for an Administrative Core (Core A) designed to provide scientific and programmatic leadership and four scientific cores: (1) Genetics (Core B) - functional and human genomics components; (2) Brain Imaging (Core C) - in vivo imaging for human studies and animal models; (3) Animal Behavior (Core D) ~ behavioral testing for mouse and non-human primate models; and (4) Clinical Translational (Core E) - promotes and supports all phases of the translational research cycle. The Administrative Core also includes a Behavioral Evaluation Center for behavioral phenotyping for human studies and a test consultation and resource center. We are also proposing to conduct a research project focusing on Joubert syndrome utilizing comprehensive - Omic approaches that is well integrated with cores and other IDDRC activities. Extensive research training and dissemination activities are also integral components of our IDDRC.

 描述（由申请人提供）：华盛顿大学尤尼斯·肯尼迪·施赖弗智力和发育障碍研究中心（IDDRC）位于人类发展和残疾中心​​（CHDD），提供全面的跨学科研究计划，旨在预防、诊断、研究是在以下 8 个合作研究领域 (CRA) 的框架内进行的： (1) 自闭症和相关疾病； (2) 脑畸形疾病；(3) 中枢神经系统损伤；(5) 环境影响和行为发育；(7) 听力障碍；(8) 学习障碍。是跨学科的，包括科学家和圣人，旨在促进转化研究。 为了促进 IDDRC 研究人员的工作，我们请求支持旨在提供科学和计划领导的行政核心（核心 A）和四个科学核心：（1）遗传学（核心 B）- 功能和人类基因组学组成部分 2； ) 脑成像（核心 C）- 用于人类研究和动物模型的体内成像；(3) 动物行为（核心 D）~ 小鼠和非人类灵长类动物模型的行为测试；以及 (4) 临床转化（核心） E) - 促进和支持转化研究周期的所有阶段。行政核心还包括一个用于人类研究表型的行为行为评估中心以及一个测试咨询和资源中心。我们还建议开展一个专注于朱伯特综合症的研究项目。综合利用 - 与核心和其他 IDDRC 活动充分结合的 Omic 方法 广泛的研究培训和传播活动也是我们 IDDRC 的组成部分。

项目成果

Further delineation of Malan syndrome.

• DOI: 10.1002/humu.23563
• 发表时间: 2018-09
• 期刊: Human mutation
• 影响因子: 3.9
• 作者: Priolo M;Schanze D;Tatton-Brown K;Mulder PA;Tenorio J;Kooblall K;Acero IH;Alkuraya FS;Arias P;Bernardini L;Bijlsma EK;Cole T;Coubes C;Dapia I;Davies S;Di Donato N;Elcioglu NH;Fahrner JA;Foster A;González NG;Huber I;Iascone M;Kaiser AS;Kamath A;Liebelt J;Lynch SA;Maas SM;Mammì C;Mathijssen IB;McKee S;Menke LA;Mirzaa GM;Montgomery T;Neubauer D;Neumann TE;Pintomalli L;Pisanti MA;Plomp AS;Price S;Salter C;Santos-Simarro F;Sarda P;Segovia M;Shaw-Smith C;Smithson S;Suri M;Valdez RM;Van Haeringen A;Van Hagen JM;Zollino M;Lapunzina P;Thakker RV;Zenker M;Hennekam RC
• 通讯作者: Hennekam RC

ERPs While Judging Meaningfulness of Sentences With and Without Homonym or Morpheme Spelling Foils: Comparing 4th to 9th Graders With and Without Spelling Disabilities.

• DOI: 10.1080/87565641.2016.1243110
• 发表时间: 2017
• 期刊: Developmental neuropsychology
• 影响因子: 1.5
• 作者: Richards T;Pettet M;Askren M;Mestre Z;Grabowski T;Yagle K;Wallis P;Northey M;Abbott R;Berninger V
• 通讯作者: Berninger V

Erratum to: A computer-generated animated face stimulus set for psychophysiological research.

勘误表：用于心理生理学研究的计算机生成的动画面部刺激集。

• DOI: 10.3758/s13428-014-0518-3
• 发表时间: 2015
• 期刊: Behavior research methods
• 影响因子: 5.4
• 作者: Naples,Adam;Nguyen-Phuc,Alyssa;Coffman,Marika;Kresse,Anna;Faja,Susan;Bernier,Raphael;McPartland,JamesC
• 通讯作者: McPartland,JamesC

Reduced auditory cortical adaptation in autism spectrum disorder.

自闭症谱系障碍中听觉皮层适应能力降低。

• DOI: 10.7554/elife.36493
• 发表时间: 2018
• 期刊: eLife
• 影响因子: 7.7
• 作者: Millin,Rachel;Kolodny,Tamar;Flevaris,AnastasiaV;Kale,AlexanderM;Schallmo,Michael-Paul;Gerdts,Jennifer;Bernier,RaphaelA;Murray,Scott
• 通讯作者: Murray,Scott

Emerging Executive Functioning and Motor Development in Infants at High and Low Risk for Autism Spectrum Disorder.

• DOI: 10.3389/fpsyg.2016.01016
• 发表时间: 2016
• 期刊: Frontiers in psychology
• 影响因子: 3.8
• 作者: St John T;Estes AM;Dager SR;Kostopoulos P;Wolff JJ;Pandey J;Elison JT;Paterson SJ;Schultz RT;Botteron K;Hazlett H;Piven J
• 通讯作者: Piven J