Baylor College of Medicine Intellectual and Developmental Disabilities Research Center

贝勒医学院智力与发育障碍研究中心

• 批准号: 10675455
• 负责人: Sandesh Chakravarthy Sreenath Nagamani
• 金额: $ 127.93万
• 依托单位: BAYLOR COLLEGE OF MEDICINE
• 依托单位国家: 美国
• 财政年份: 2020
• 资助国家: 美国
• 起止时间: 2020-07-22 至 2025-05-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10675455
• 关键词: Acceleration; Advanced Development; Age; Basic Science; Biological Markers; Blood; Caring; Cells; Clinical; Clinical Research; Clinical Trials; Collaborations; Communication; Communities; Core Facility; Cost Effectiveness Analysis; Coupled; DNA; Development; Dimensions; Disease; Education; Environment; Fostering; Future; Gene Dosage; Generations; Genetic; Goals; Human Genetics; Individual; Influentials; Infrastructure; Institution; Intellectual and Developmental Disabilities Research Centers; Intellectual functioning disability; International; Intervention; Investigation; Laboratories; Leadership; Medicine; Mentors; Mentorship; Mission; Molecular; Molecular Genetics; Neurons; Neurosciences; Oligonucleotides; Outcome; Pathogenesis; Pediatric Hospitals; Pediatrics; Personal Satisfaction; Phase; Phenotype; Philosophy; Physicians; Play; Population; Psychiatry; Quality of life; Reproducibility; Research; Research Activity; Research Infrastructure; Research Personnel; Research Project Grants; Role; Safety; Science; Scientist; Services; Shapes; Study models; Techniques; Texas; Therapeutic; Tissues; Training; Translational Research; Vision; Whole Organism; animal model development; base; biomarker panel; clinical heterogeneity; clinical translation; clinical trial readiness; college; community partnership; cost effective; drug discovery; education planning; educational atmosphere; gene therapy; improved; in vivo Model; innovation; learning community; multidisciplinary; next generation; novel diagnostics; novel therapeutic intervention; operation; pre-clinical; preclinical study; programs; recruit; specific biomarkers; synergism; therapeutic development

PROJECT SUMMARY/ABSTRACT: The Eunice Kennedy Shriver Intellectual and Developmental Disabilities Research Center at Baylor College of Medicine (BCM IDDRC) has been instrumental in advancing basic science, translational, and clinical endeavors to improve the lives of individuals with intellectual and developmental disability (IDD). Beyond discoveries, the Center has mentored more than two generations of scientists and physicians engaged in research and the care and treatment of individuals with IDD. The mission of the BCM IDDRC is to identify as many causes of IDD as possible, to understand their pathogenesis, and to develop novel diagnostic and therapeutic approaches. To realize this mission, accelerate the research activities of our Investigators and advance development of therapeutics for IDD, we will carry out the following aims: 1) Provide Core facilities and services to advance IDD research. Six cores are proposed to provide innovative, high-quality and cost-effective research services to assist investigators in studies of molecules (Molecular and Expression Analysis), cells and tissues (Cell and Tissue Pathogenesis), circuits (Circuit Analysis and Modulation), and whole organisms (Preclinical and Clinical Outcomes). The Clinical Translational Core will provide services specific for clinical research infrastructure and the Center Administration Core will coordinate overall Center operations along with stakeholder engagement, communication and education; 2) Promote and enhance collaborative efforts and dissemination activities with a comprehensive engagement, communication, and education plan. The Admin Core will promote interactions locally, nationally, and internationally, will implement best practices for community partnerships and dissemination of research findings, and will enhance the training of next-generation IDD researchers; 3) Conduct a multidisciplinary signature research project that leads to clinical trial readiness. The emergence of DNA-based therapies, coupled with exciting discoveries and preclinical studies from the BCM IDDRC, provides exciting opportunities to treat IDDs, but the fact that many IDD-causing genes are dosage sensitive (too much or too little is detrimental) poses a serious challenge requiring robust biological markers meaningful for the individual rather than the population. The Signature Project seeks to develop multidimensional biomarkers (molecules and circuits) for target engagement, safety, and efficacy in six gene dosage dependent IDDs. The Center will support 75 investigators and 72 research projects. For 30+ years the BCM IDDRC has had a profound impact on IDD, elucidating causes, determining mechanisms, and developing interventions. It has fostered an environment that welcomes and supports additional investigators and emphasizes training. As we enter the next decade, Center investigators, their collaborators, and trainees are poised to transform dozens of exciting discoveries into safe therapeutics that will improve the quality of life and well-being of individuals with IDD.

项目摘要/摘要：尤尼斯·肯尼迪·施莱弗智力和发育障碍 贝勒医学院(BCM IDDRC)研究中心一直在推动 科学、翻译和临床方面的努力，以改善具有智力和 发育障碍(IDD)。除了发现，该中心还指导了两代以上的 从事研究、护理和治疗IDD患者的科学家和医生。这项使命 BCM IDDRC的目的是尽可能多地识别IDD的病因，了解其发病机制，并 开发新的诊断和治疗方法。为实现这一使命，加快研究 我们的研究人员的活动和推进IDD治疗的发展，我们将进行以下工作 目标：1)提供核心设施和服务，推动IDD研究。建议使用六个内核来提供 创新、高质量、高性价比的研究服务，帮助研究人员进行分子研究 (分子与表达分析)、细胞与组织(细胞与组织致病学)、电路(电路 分析和调节)和整体生物体(临床前和临床结果)。《临床》 Translational Core将为临床研究基础设施和中心提供特定的服务 管理核心将协调中心的整体运营以及利益相关者的参与， 传播和教育；2)促进和加强合作努力和传播活动 具有全面的参与、沟通和教育计划。管理核心将促进 地方、国家和国际互动将实施社区伙伴关系的最佳做法 和传播研究成果，并将加强对下一代IDD的培训 研究人员；3)进行导致临床试验的多学科标志性研究项目 准备好了。基于DNA的疗法的出现，加上令人兴奋的发现和临床前研究 来自BCM IDDRC，为治疗IDDS提供了令人兴奋的机会，但事实是许多导致IDD的基因 对剂量敏感(太多或太少都是有害的)构成了一个严重的挑战，需要强大的生物学 标记对个人有意义，而不是对群体有意义。签名项目寻求发展 六个基因中靶向结合、安全性和有效性的多维生物标志物(分子和电路) 剂量依赖性IDDS。该中心将支持75名研究人员和72个研究项目。30多年来， BCM IDDRC对IDD产生了深远的影响，阐明了IDD的病因、确定机制和发展 干预措施。它营造了一个欢迎和支持更多调查人员和 强调培训。随着我们进入下一个十年，中心的调查人员、他们的合作者和受训人员 准备将数十项令人兴奋的发现转化为安全的疗法，将改善生活质量和 IDD患者的幸福感。

项目成果

Primary Outcomes for Adults Receiving the Unified Protocol after Hurricane Harvey in an Integrated Healthcare Setting.

• DOI: 10.1007/s10597-022-00967-1
• 发表时间: 2022-11
• 期刊: Community mental health journal
• 影响因子: 2.7
• 作者: Weinzimmer SA;Goetz AR;Guzick AG;Hana LM;Cepeda SL;Schneider SC;Kennedy SM;Amos Nwankwo GN;Christian CC;Shaw AM;Salloum A;Shah AA;Goodman WK;Ehrenreich-May J;Storch EA
• 通讯作者: Storch EA

Parental mosaicism for apparent de novo genetic variants: Scope, detection, and counseling challenges.

父母的摩西主义明显的从头遗传变异：范围，检测和咨询挑战。

• DOI: 10.1002/pd.6144
• 发表时间: 2022-06
• 期刊: Prenatal diagnosis
• 影响因子: 3

Author Correction: The cerebellum contributes to generalized seizures by altering activity in the ventral posteromedial nucleus.

作者更正：小脑通过改变腹侧后内侧核的活动而导致全身性癫痫发作。

• DOI: 10.1038/s42003-024-05885-4
• 发表时间: 2024
• 期刊: Communications biology
• 影响因子: 5.9
• 作者: Beckinghausen,Jaclyn;Ortiz-Guzman,Joshua;Lin,Tao;Bachman,Benjamin;SalazarLeon,LuisE;Liu,Yu;Heck,DetlefH;Arenkiel,BenjaminR;Sillitoe,RoyV
• 通讯作者: Sillitoe,RoyV

Anger Outbursts in Youth with ASD and Anxiety: Phenomenology and Relationship with Family Accommodation.

患有自闭症谱系障碍和焦虑症的青少年的愤怒爆发：现象学以及与家庭住宿的关系。

• DOI: 10.1007/s10578-022-01489-3
• 发表时间: 2022
• 期刊: Child psychiatry and human development
• 影响因子: 2.9
• 作者: Townsend,AllieN;Guzick,AndrewG;Hertz,AlyssaG;Kerns,ConnorM;Goodman,WayneK;Berry,LeandraN;Kendall,PhilipC;Wood,JeffreyJ;Storch,EricA
• 通讯作者: Storch,EricA

Examining the Relationship Between Anxiety Severity and Autism-Related Challenges During Cognitive Behavioral Therapy for Children with Autism.

检查自闭症儿童认知行为治疗期间焦虑严重程度与自闭症相关挑战之间的关系。

• DOI: 10.1007/s10803-023-05912-z
• 发表时间: 2023
• 期刊: Journal of autism and developmental disorders
• 影响因子: 3.9
• 作者: Fuselier,MadeleineN;Guzick,AndrewG;Bakhshaie,Jafar;Wood,JeffreyJ;Kendall,PhilipC;Kerns,ConnorM;Small,BrentJ;Goodman,WayneK;Storch,EricA
• 通讯作者: Storch,EricA