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.

项目总结/摘要 这个P50奖将继续支持智力和发育障碍研究中心 （IDDRC），这一直是肯尼迪克里格研究所（KKI）和约翰 霍普金斯大学（JHU）超过30年的支持研究人员寻求了解，治疗和 减轻智力和发育残疾的不利影响，并传播 向公众展示这些发现，以达到预防的目标。IDDRC继续围绕五个核心构建： (1)管理;（2）临床转化;（3）基因组学;（4）神经影像学;和（5）行为表型， 以及一个综合研究项目，研究睡眠，昼夜节律功能障碍和大脑的作用。 自闭症儿童的发展。 该中心的组织和核心结构与NICHD IDD的研究重点保持一致 分支，包括了解IDD的病因和复杂的合并症;提高早期识别和 筛选;生物标志物和结果测量的识别;理解自然史;和翻译 从发现到治疗，最终到公共政策--所有这些都以预防为目标。该中心的 转化科学的主题是沿着“实验室到诊所， 社区”。为了实现这些目标，该中心的目标是沿着全面的 T4翻译的连续性。整个中心都强调这一点，并特别强调 通过链接到研究所的UCEDD（马里兰州中心）的行政核心传播 发展障碍）和神经发育障碍（LEND）计划的领导力教育。 该中心的目标是：（1）提供必要的基础设施，专业知识和服务， 促进缺碘症领域的跨学科研究;（2）作为机构间 发展和实施针对缺碘症研究的伙伴关系（包括缺碘症和刚果民主共和国间的伙伴关系）; (3)提供与缺碘症领域内的科学研究有关的培训和技术援助机会; 以及（4）作为科学发现的翻译和传播的中心（包括本地和全国） 与缺碘症有关的活动，以实现宣传（并最终形成）公共政策的目标。

项目成果

Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity.

• DOI: 10.1172/jci162957
• 发表时间: 2023-05-15
• 期刊: JOURNAL OF CLINICAL INVESTIGATION
• 影响因子: 15.9
• 作者: Planas-Serra, Laura;Launay, Nathalie;Goicoechea, Leire;Heron, Benedicte;Jou, Cristina;Julia-Palacios, Natalia;Ruiz, Montserrat;Fourcade, Stephane;Casasnovas, Carlos;De La Torre, Carolina;Gelot, Antoinette;Marsal, Maria;Loza-Alvarez, Pablo;Garcia-Cazorla, Angels;Fatemi, Ali;Ferrer, Isidre;Portero-Otin, Manel;Area-Gomez, Estela;Pujol, Aurora
• 通讯作者: Pujol, Aurora

Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates.

• DOI: 10.1186/s12883-023-03354-9
• 发表时间: 2023-08-17
• 期刊: BMC NEUROLOGY
• 影响因子: 2.6
• 作者: Schoenmakers, Daphne H.;Leferink, Prisca S.;Vanderver, Adeline;Bonkowsky, Joshua L.;Kraegeloh-Mann, Ingeborg;Bernard, Genevieve;Bertini, Enrico;Fatemi, Ali;Fogel, Brent L.;Wolf, Nicole I.;Skwirut, Donna;Buck, Allyson;Holberg, Brett;Saunier-Vivar, Elise F.;Rauner, Robert;Dekker, Hanka;van Bokhoven, Pieter;Stellingwerff, Menno D.;Berkhof, Johannes;van der Knaap, Marjo S.
• 通讯作者: van der Knaap, Marjo S.

Higher maternal education is related to negative functional connectivity between attention system networks and reading-related regions in children with reading difficulties compared to typical readers.

• DOI: 10.1016/j.brainres.2021.147532
• 发表时间: 2021-09-01
• 期刊: Brain research
• 影响因子: 2.9
• 作者: Greenwood P;Dudley J;Hutton J;DiFrancesco M;Farah R;Horowitz-Kraus T
• 通讯作者: Horowitz-Kraus T

Variation of cerebrospinal fluid in specific regions regulates focality in transcranial direct current stimulation.

• DOI: 10.3389/fnhum.2022.952602
• 发表时间: 2022
• 期刊: Frontiers in human neuroscience
• 影响因子: 2.9

Executive functions-based reading training engages the cingulo-opercular and dorsal attention networks.

• DOI: 10.1162/netn_a_00335
• 发表时间: 2023
• 期刊: NETWORK NEUROSCIENCE
• 影响因子: 4.7
• 作者: Taran, Nikolay;Farah, Rola;Gashri, Carmel;Gitman, Ester;Rosch, Keri;Schlaggar, Bradley L.;Horowitz-Kraus, Tzipi
• 通讯作者: Horowitz-Kraus, Tzipi