Intellectual and Developmental Disabilities Research Center

智力与发育障碍研究中心

• 批准号: 10661668
• 负责人: Sandra E Juul
• 金额: $ 127.18万
• 依托单位: UNIVERSITY OF WASHINGTON
• 依托单位国家: 美国
• 财政年份: 2020
• 资助国家: 美国
• 起止时间: 2020-07-28 至 2025-05-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10661668
• 关键词: Animal Behavior; Animal Model; Animals; Area; Awareness; Basic Science; Behavioral; Bioinformatics; Biological; Biological Models; Brain imaging; Cell model; Cerebellar malformation; Child; Clinical; Clinical Research; Clinical Trials; Collaborations; Communication; Communities; Consultations; Diagnosis; Disease; Education; Educational Activities; Effectiveness; Electrophysiology (science); Environment; Epilepsy; Equipment; Evaluation; Faculty; Family; Fostering; Future; Genes; Genetic; Goals; Grant; Hearing problem; Human; Human Development; Human Subject Research; Individual; Intellectual and Developmental Disabilities Research Centers; Intellectual functioning disability; Intervention; Investigation; Leadership; Learning Disabilities; Magnetic Resonance; Maps; Mentors; Modality; Modeling; NMR Spectroscopy; Nature; Newsletter; Operative Surgical Procedures; Outcome Study; Periodicals; Pharmaceutical Preparations; Positioning Attribute; Positron-Emission Tomography; Precision therapeutics; Research; Research Design; Research Institute; Research Personnel; Research Priority; Research Project Grants; Research Support; Research Training; Resources; Rodent Model; Scientist; Series; Services; Site; Study models; Subgroup; Technical Expertise; Techniques; Technology; Testing; Translational Research; Universities; Washington; Work; autism spectrum disorder; behavior test; behavioral phenotyping; brain malformation; brain research; central nervous system injury; clinical translation; design; developmental toxicology; disability; early childhood; effective therapy; functional genomics; human genomics; human imaging; in vivo; in vivo imaging; innovation; interest; nonhuman primate; prevent; programs; research data dissemination; symposium; translational framework; web site

PROJECT SUMMARY 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 basic and translational 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) Biological Basis of Autism; (2) Brain Malformation Disorders; (3) Central Nervous System Injury; (4) Consortium on Early Childhood Intervention; (5) Developmental Toxicology; (6) Epilepsy; (7) Hearing Disorders, and (8) Learning Disabilities. All CRAs are interdisciplinary, include scientists, clinicians, and trainees 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 designed to provide scientific and programmatic leadership and four scientific cores: (1) Genetics -- functional and human genomics and model system components; (2) Brain Imaging -- in vivo imaging for human studies and animal models; (3) Animal Behavior -- behavioral testing for rodent models and consultation for non-human primate models and application of circuit mapping techniques; and (4) Clinical Translational -- promotes and supports clinical and translational research. We are also proposing to conduct a research project focusing on a unique cerebellar malformation utilizing comprehensive- omic approaches that are well integrated with cores and other IDDRC activities. Extensive research training and dissemination activities are also integral components of our IDDRC.

项目摘要 华盛顿大学尤妮斯·肯尼迪·施赖弗智力和发展 残疾人研究中心（IDDRC），总部设在人类发展中心 和残疾（CHDD），提供了一个全面的跨学科的基本和 转化研究旨在预防，诊断和治疗患有 智力和发育残疾。研究是在 以下8个合作研究领域（CRA）的框架：（1）生物学基础 自闭症;（2）脑畸形障碍;（3）中枢神经系统损伤;（4） 儿童早期干预联合会;（5）发育毒理学;（6） 癫痫;（7）听力障碍;（8）学习障碍。所有CRA均为 跨学科，包括科学家，临床医生和学员，旨在促进 翻译研究在本申请中，为了方便调查人员在我们的 IDDRC，我们正在请求支持一个旨在提供 科学和方案领导和四个科学核心：（1）遗传学---- 功能和人类基因组学和模型系统组件;（2）脑成像-在 用于人体研究和动物模型的体内成像;（3）动物行为-行为 测试啮齿动物模型和咨询非人类灵长类动物模型， 电路映射技术的应用;和（4）临床转化-促进和 支持临床和转化研究。我们亦建议进行一项 研究项目的重点是一个独特的小脑畸形利用全面- 与核心和其他IDDRC活动集成良好的组学方法。 广泛的研究、培训和传播活动也是 我们的IDDRC。

项目成果

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

• DOI: 10.1016/j.gim.2022.04.010
• 发表时间: 2022-08
• 期刊: GENETICS IN MEDICINE
• 影响因子: 8.8
• 作者: van der Sluijs, Pleuntje J.;Joosten, Marieke;Alby, Caroline;Gilmore, Kelly;Dubourg, Christele;Fradin, Melanie;Wang, Tianyun;Kurtz-Nelson, Evangeline C.;Ahlers, Kaitlyn P.;Arts, Peer;Barnett, Christopher P.;Ashfaq, Myla;Baban, Anwar;van den Born, Myrthe;Borrie, Sarah;Busa, Tiffany;Byrne, Alicia;Carriero, Miriam;Cesario, Claudia;Chong, Karen;Dempsey, Jennifer C.;Cueto-Gonzalez, Anna Maria;Diderich, Karin E. M.;Doherty, Dan;Farholt, Stense;Gerkes, Erica H.;Gorokhova, Svetlana;Govaerts, Lutgarde C. P.;Gregersen, Pernille A.;Hickey, Scott E.;Lefebvre, Mathilde;Mari, Francesca;Martinovic, Jelena;Northrup, Hope;O'Leary, Melanie;Parbhoo, Kareesma;Patrier, Sophie;Popp, Bernt;Santos-Simarro, Fernando;Stoltenburg, Corinna;Thauvin-Robinet, Christel;Thompson, Elisabeth;Vulto-van Silfhout, Anneke T.;Zahir, Farah R.;Scott, Hamish S.;Earl, Rachel K.;Eichler, Evan E.;Vora, Neeta L.;Wilnai, Yael;Giordano, Jessica L.;Wapner, Ronald J.;Rosenfeld, Jill A.;Haak, Monique C.;Santen, Gijs W. E.
• 通讯作者: Santen, Gijs W. E.

Assessment of Autism Zebrafish Mutant Models Using a High-Throughput Larval Phenotyping Platform.

• DOI: 10.3389/fcell.2020.586296
• 发表时间: 2020
• 期刊: Frontiers in cell and developmental biology
• 影响因子: 5.5
• 作者: Colón-Rodríguez A;Uribe-Salazar JM;Weyenberg KB;Sriram A;Quezada A;Kaya G;Jao E;Radke B;Lein PJ;Dennis MY
• 通讯作者: Dennis MY

Neonatal subarachnoid hemorrhage disrupts multiple aspects of cerebellar development.

• DOI: 10.3389/fnmol.2023.1161086
• 发表时间: 2023
• 期刊: FRONTIERS IN MOLECULAR NEUROSCIENCE
• 影响因子: 4.8
• 作者: Butler, David F.;Skibo, Jonathan;Traudt, Christopher M.;Millen, Kathleen J.
• 通讯作者: Millen, Kathleen J.

Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.

• DOI: 10.1002/ajmg.a.62362
• 发表时间: 2021-09
• 期刊: American journal of medical genetics. Part A
• 作者: Pirozzi F;Lee B;Horsley N;Burkardt DD;Dobyns WB;Graham JM Jr;Dentici ML;Cesario C;Schallner J;Porrmann J;Di Donato N;Sanchez-Lara PA;Mirzaa GM
• 通讯作者: Mirzaa GM

Quantitative Assessment of the Intracranial Vasculature of Infants and Adults Using iCafe (Intracranial Artery Feature Extraction).

• DOI: 10.3389/fneur.2021.668298
• 发表时间: 2021
• 期刊: Frontiers in neurology
• 影响因子: 3.4
• 作者: Chen L;Shaw DWW;Dager SR;Corrigan NM;Chu B;Kleinhans NM;Kuhl PK;Hwang JN;Yuan C
• 通讯作者: Yuan C