SUPPORT FOR THE ROSE F KENNEDY IDDRC P50

支持 ROSE F KENNEDY IDDRC P50

基本信息

批准号：
10669059
负责人：
SOPHIE MOLHOLM
金额：
$ 100万
依托单位：
ALBERT EINSTEIN COLLEGE OF MEDICINE
依托单位国家：
美国
项目类别：
财政年份：
2021
资助国家：
美国
起止时间：
2021-07-23 至 2026-05-31
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10669059
关键词：
Advocate Affect Animal Behavior Animals Basic Science Biological Biology Charge Child Clinic Clinical Clinical Research Collaborations Communities Community Outreach Coupled Dedications DiGeorge Syndrome Diagnosis Disease Disorder of neurometabolic regulation Early Diagnosis Educational workshop Epigenetic Process Evaluation Faculty Faculty Recruitment Family Fostering Funding Ganglia Genes Genetic Transcription Genomics Goals Grant Head Hospitals Human Human Resources Image Infant Infantile spasms Institution Intellectual and Developmental Disabilities Research Centers Intellectual functioning disability Laboratory Research Leadership Link Lysine Medical Medical center Medicine Metabolism Mission Monitor Mutation National Institute of Child Health and Human Development Neonatal Screening Neurodevelopmental Disorder Neurofibromatoses Neurons Newsletter Online Systems Outcome Participant Pathogenesis Pathway interactions Patient Care Patients Pediatric Hospitals Phenotype Postdoctoral Fellow Quality Control Recruitment Activity Rehabilitation Centers Research Research Personnel Research Project Grants Rett Syndrome Role Science Scientist Services Solid Structure Students Talents Technology Time Training Training Programs Translating Translational Research Tuberous Sclerosis Universities Visualization Williams Syndrome animal tissue arm autism spectrum disorder brain cell cellular engineering cellular imaging clinical care clinical phenotype clinical training clinical translation college cost effectiveness design developmental disease forging fortification human tissue imaging facilities improved innovation insight member multidisciplinary multimodality neurogenomics next generation novel operation outreach outreach program precision medicine prevent programs research study screening program symposium tool

项目摘要

PROJECT SUMMARY/ABSTRACT (OVERALL) The overarching purpose of the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center (RFK IDDRC) is to improve the lives of children with intellectual and developmental disabilities (IDDs). Fifty- plus years of distinguished progress in basic, translational and clinical research as one of NICHD’s flagship IDDRCs, coupled with important recent faculty recruitments and an historic merger between the Albert Einstein College of Medicine and its University-Affiliated Hospital, Montefiore Medical Center, offer a solid platform for continuing excellence in our commitment to IDD research. The Center’s 4 highly integrated scientific Cores consist of: 1) our clinical translational core known as the Human Clinical Phenotyping (Core B, HCP), which serves to facilitate both access to and characterization of participants for IDD relevant research; 2) a Neurogenomics facility (Core C, NGEN) that provides cutting edge epigenetic and genomic processing and analyses on both human and animal tissues; 3) a Neural Cell Engineering and Imaging facility (Core D, NCEI) that provides state-of-the-art approaches to brain cell manipulation and visualization; and 4) an Animal Phenotyping facility (Core E, AP) for evaluation of animal behavior, metabolism and imaging in a manner with strong parallels to approaches taken in patients accessed through HCP. Each of our scientific Cores is carefully overseen and monitored by the Administrative Core (Core A, ADM), which also serves as the head ganglion of the entire IDDRC in its substantial outreach programs to Einstein/Montefiore, the Bronx community as well as nationally. Each scientific Core has an essential connection to our signature Research Project which brings together a multidisciplinary team of investigators focused on mechanisms of IDD in children with mutations in the transcriptional regulator lysine demethylase 5c gene, KDM5C. A central function of the RFK IDDRC is to promote the substantive links between Einstein research laboratories and clinics at the Children's Evaluation and Rehabilitation Center (CERC) and the Children’s Hospital At Montefiore (CHAM). Together, our Cores and research project form a dynamic network – a community – of IDD-focused programs and practices that interlink 18 different academic departments, >100 IDDRC members and 20-plus IDD-relevant clinics at Einstein and Montefiore. The latter include 22q11.2DS, Rett and Williams syndromes, tuberous sclerosis, neurofibromatosis, West syndrome and infantile spasms, autism spectrum disorders, and a wide range of neurometabolic disorders. New initiatives moving forward at this time include our unique precision medicine/community outreach program we call Operation IDD Gene Team, our goal to fortify ties with our Einstein clinical partner (CERC and its affiliated UCEDD and LEND programs) under the umbrella of the Rose F. Kennedy Center and a heightened focus on training through our newly established T32 for IDD postdoctoral fellows.

项目摘要/摘要（总体）玫瑰F.肯尼迪知识和发展障碍研究中心的总体目的（RFK IDDRC）是为了改善智力和发育障碍儿童（IDD）的生活。五十- 再加上NICHD旗舰店之一的基础，翻译和临床研究的多年杰出进展 IDDRC，加上最近的重要教师招募和艾伯特·爱因斯坦（Albert Einstein）之间的历史合并医学院及其大学附属医院蒙特菲奥尔医学中心，为在我们对IDD研究的承诺中，持续卓越。该中心的4个高度集成的科学核心包括：1）我们被称为人类临床表型（核心B，HCP）的临床翻译核心，该核心有助于促进参与者的IDD相关研究的访问和表征； 2）a 神经基因组学设施（Core C，NGEN），可提供尖端表观遗传和基因组加工和对人体和动物组织进行分析； 3）神经细胞工程和成像设施（核心D， NCEI）提供了用于脑细胞操纵和可视化的最新方法； 4）动物表型设施（核心E，AP），用于评估动物行为，代谢和成像的方式通过HCP进入的患者采取的方法很强。我们的每个科学核心都是经过行政核心（核心A，ADM）的仔细监督和监视，这也是头部整个IDDRC的神经节在给布朗克斯社区的爱因斯坦/蒙特菲尔的大量外展计划中以及在全国范围内。每个科学核心与我们的签名研究项目都有重要的联系这汇集了一个跨学科的调查人员团队，专注于IDD的机制转录调节剂赖氨酸脱甲基酶5C基因的突变，KDM5C。 RFK的中心功能 IDDRC旨在促进爱因斯坦研究实验室与诊所之间的实质性联系评估与康复中心（CERC）和蒙特菲尔（CHAN）的儿童医院。在一起，我们的核心和研究项目构成了一个动态网络 - 一个社区 - 由IDD专注的程序和实践组成链接18个不同的学术部门，> 100名IDDRC成员和20多个与IDD相关的诊所爱因斯坦和蒙特菲尔。后者包括22q11.2ds，Rett和Williams综合征，结节硬化症，神经纤维瘤病，西综合征和基础设施痉挛，自闭症谱系障碍以及广泛的神经代谢疾病。此时的新计划包括我们的独特精度医学/社区宣传计划我们称为行动IDD基因团队，我们的目标是加强与我们的联系爱因斯坦临床合作伙伴（CERC及其附属公司UCEDD和贷款计划） F. Kennedy中心以及通过我们新成立的IDD博士后T32的培训的重点加强研究员。

项目成果

期刊论文数量（97）

专著数量（0）

科研奖励数量（0）

会议论文数量（0）

专利数量（0）

Remodeling of Neurotransmission, Chemokine, and PI3K-AKT Signaling Genomic Fabrics in Neuropsychiatric Systemic Lupus Erythematosus.

DOI：
10.3390/genes12020251
发表时间：
2021-02-10
期刊：
Genes
影响因子：
3.5
作者：
Iacobas D;Wen J;Iacobas S;Schwartz N;Putterman C
通讯作者：
Putterman C

Multimodal Investigations of Reward Circuitry and Anhedonia in Adolescent Depression.

DOI：
10.3389/fpsyt.2021.678709
发表时间：
2021
期刊：
Frontiers in psychiatry
影响因子：
4.7
作者：
Ely BA;Nguyen TNB;Tobe RH;Walker AM;Gabbay V
通讯作者：
Gabbay V

Plasma lyso-sphingomyelin levels are positively associated with clinical severity in acid sphingomyelinase deficiency.

DOI：
10.1016/j.ymgmr.2021.100780
发表时间：
2021-09
期刊：
Molecular genetics and metabolism reports
影响因子：
1.9
作者：
Breilyn MS;Zhang W;Yu C;Wasserstein MP
通讯作者：
Wasserstein MP

Lack of Associations Between C-Reactive Protein and Mood and Anxiety Symptoms in Adolescents.

C 反应蛋白与青少年情绪和焦虑症状之间缺乏关联。

DOI：
10.1089/cap.2020.0201
发表时间：
2021
期刊：
Journal of child and adolescent psychopharmacology
影响因子：
1.9
作者：
Liu,Qi;Ely,BenjaminA;Simkovic,Sherry;Alonso,CarmenM;Gabbay,Vilma
通讯作者：
Gabbay,Vilma

Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease.

对克拉伯病筛查呈阳性的婴儿进行分类和长期随访的共识建议。

DOI：
10.1016/j.ymgme.2021.03.016
发表时间：
2021
期刊：
Molecular genetics and metabolism
影响因子：
3.8
作者：
Thompson-Stone,Robert;Ream,MargieA;Gelb,Michael;Matern,Dietrich;Orsini,JosephJ;Levy,PaulA;Rubin,JenniferP;Wenger,DavidA;Burton,BarbaraK;Escolar,MariaL;Kurtzberg,Joanne
通讯作者：
Kurtzberg,Joanne