Intellectual and Developmental Disabilities Research Centers 2020

智力和发育障碍研究中心 2020

• 批准号: 10677567
• 负责人: S. Ali Fatemi
• 金额: $ 128.28万
• 依托单位: HUGO W. MOSER RES INST KENNEDY KRIEGER
• 依托单位国家: 美国
• 财政年份: 2020
• 资助国家: 美国
• 起止时间: 2020-08-01 至 2025-05-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10677567
• 关键词: Address; Advocacy; Award; Basic Science; Behavioral; Brain; Center for Translational Science Activities; Circadian Dysregulation; Clinic; Cognitive; Collaborations; Communities; Complex; Dedications; Development; Developmental Disabilities; Early identification; Education; Ensure; Etiology; Extramural Activities; Funding; Genomics; Goals; Human; Individual; Infrastructure; Institution; Intellectual and Developmental Disabilities Research Centers; Intellectual functioning disability; Interdisciplinary Study; International; Intervention; Investigation; Knowledge; Leadership; Link; Maryland; Mentorship; National Institute of Child Health and Human Development; Natural History; Neurodevelopmental Disability; Outcome Measure; Patients; Policies; Prevalence; Prevention; Public Health; Public Policy; Research; Research Personnel; Research Priority; Research Project Grants; Resource Sharing; Resources; Role; Schools; Scientific Inquiry; Services; Shapes; Site; Sleep; Sleep Disorders; Strategic Planning; Structure; Time; Training; Translational Research; Translations; Universities; autism spectrum disorder; autistic children; behavioral phenotyping; biomarker identification; clinical care; clinical practice; clinical translation; comorbidity; cost; developmental disease; early screening; experience; improved; improved outcome; inter-institutional; knowledge translation; multidisciplinary; neurobehavioral; neuroimaging; precision medicine; programs

PROJECT SUMMARY/ABSTRACT This P50 award will continue to support the Intellectual and Developmental Disabilities Research Center (IDDRC), which has been central to the scientific enterprise at the Kennedy Krieger Institute (KKI) and Johns Hopkins University (JHU) for over 30 years—supporting investigators seeking to understand, treat and ameliorate the adverse impact of intellectual and developmental disabilities (IDD), and to disseminate discoveries to the public toward a goal of prevention. The IDDRC continues to be structured around five Cores: (1) Administrative; (2) Clinical Translational; (3) Genomics; (4) Neuroimaging; and, (5) Behavioral Phenotyping, as well an integrated Research Project examining the role of sleep, circadian dysfunction, and brain development in children with autism. The Center's organization and Core structure are aligned with the research priorities of the NICHD IDD branch, including understanding etiology and complex comorbidities of IDD; improving early identification and screening; identification of biomarkers and outcome measures; understanding natural history; and translation of discovery to treatment and, ultimately, to public policy—all with a goal of prevention. The Center's translational science theme centers on progressing knowledge along the continuum from “labs to clinics to communities.” In keeping with these goals, this Center's aims promote translational science along the full continuum of T4 translation. This emphasis is employed throughout the Center, with added importance on dissemination through the Administrative Core via links to the Institute's UCEDD (Maryland Center for Developmental Disabilities) and Leadership Education in Neurodevelopmental Disabilities (LEND) programs. The Center's aims are to: (1) provide infrastructure, expertise, and services necessary to promote and facilitate interdisciplinary research in the field of IDD; (2) act as the vehicle through which inter-institutional partnerships (including inter-IDDRC partnerships) addressing IDD research are developed and implemented; (3) provide training and technical assistance opportunities related to scientific inquiry within the field of IDD; and (4) serve as a hub (both locally and nationally) for translation and dissemination of scientific discoveries related to IDD toward the goal of informing (and ultimately shaping) public policy.

项目概要/摘要 该 P50 奖项将继续支持智力和发育障碍研究中心 (IDDRC)，它一直是肯尼迪克里格研究所 (KKI) 和约翰斯研究所科学事业的核心 霍普金斯大学 (JHU) 30 多年来一直为研究人员寻求理解、治疗和治疗提供支持 改善智力和发育障碍（IDD）的不利影响，并传播 IDDRC 继续围绕五个核心构建： (1) 管理；(2) 临床转化；(4) 神经影像学；(5) 行为表型； 以及一个综合研究项目，检查睡眠、昼夜节律功能障碍和大脑的作用 自闭症儿童的发育。 该中心的组织和核心结构与 NICHD IDD 的研究重点一致 分支，包括了解 IDD 的病因和复杂的合并症；改善早期识别和治疗； 筛选；识别生物标志物和结果测量；了解自然历史和翻译； 从发现到治疗，最终到公共政策——所有这些都是为了预防。 转化科学主题的中心是沿着从“实验室到诊所到 为了与这些目标保持一致，该中心的目标是全面促进转化科学。 T4 翻译的连续性贯穿整个中心，尤其是 通过与研究所 UCEDD（马里兰研究中心）的链接，通过行政核心进行传播 发育障碍）和神经发育障碍领导力教育（LEND）计划。 该中心的目标是：(1) 提供必要的基础设施、专业知识和服务，以促进和 促进 IDD 领域的跨学科研究；(2) 作为机构间研究的工具； 制定和实施针对 IDD 研究的伙伴关系（包括 IDDRC 之间的伙伴关系）； (3) 提供IDD领域内与科学探究相关的培训和技术援助机会； (4) 作为科学发现的翻译和传播中心（本地和全国） 与 IDD 相关，以实现告知（并最终塑造）公共政策的目标。

项目成果

No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy.

罕见的凝集素变异体在致心律失常性右心室心肌病中没有主要作用。

• 发表时间: 2018
• 影响因子: 3.7
• 作者: Hoorntje, Edgar T;Posafalvi, Anna;Syrris, Petros;van der Velde, K Joeri;Bolling, Marieke C;Protonotarios, Alexandros;Boven, Ludolf G;Amat;Groeneweg, Judith A;Wilde, Arthur A;Sobreira, Nara;Calkins, Hugh;Hauer, Richard N W;Jonkma
• 通讯作者: Jonkma

Determining the Bioenergetic Capacity for Fatty Acid Oxidation in the Mammalian Nervous System.

确定哺乳动物神经系统中脂肪酸氧化的生物能能力。

• 发表时间: 2020-04-28
• 影响因子: 5.3
• 作者: White, Cory J;Lee, Jieun;Choi, Joseph;Chu, Tiffany;Scafidi, Susanna;Wolfgang, Michael J
• 通讯作者: Wolfgang, Michael J

Expansion of the genetic landscape of ERLIN2-related disorders.

ERLIN2 相关疾病遗传图谱的扩展。

• 发表时间: 2020
• 作者: Srivastava, Siddharth;D'Amore, Angelica;Cohen, Julie S;Swanson, Lindsay C;Ricca, Ivana;Pini, Antonella;Fatemi, Ali;Ebrahimi;Santorelli, Filippo M
• 通讯作者: Santorelli, Filippo M

Initial outcomes of an augmented competing stimulus assessment.

增强竞争刺激评估的初步结果。

• 发表时间: 2020
• 影响因子: 2.9
• 作者: Hagopian, Louis P;Frank;Javed, Noor;Fisher, Alyssa B;Dillon, Christopher M;Zarcone, Jennifer R;Rooker, Griffin W
• 通讯作者: Rooker, Griffin W

A non-mosaic transchromosomic mouse model of down syndrome carrying the long arm of human chromosome 21.

携带人类 21 号染色体长臂的唐氏综合症非马赛克转染色体小鼠模型。

• 发表时间: 2020
• 影响因子: 7.7
• 作者: Kazuki, Yasuhiro;Gao, Feng J;Li, Yicong;Moyer, Anna J;Devenney, Benjamin;Hiramatsu, Kei;Miyagawa;Abe, Satoshi;Kazuki, Kanako;Kajitani, Naoyo;Uno, Narumi;Takehara, Shoko;Takiguchi, Masato;Yamakawa, Miho;Hasegawa, Atsushi;Shim
• 通讯作者: Shim