SUPPORT FOR THE ROSE F KENNEDY IDDRC P50

支持 ROSE F KENNEDY IDDRC P50

• 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
• 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

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）

项目成果

White matter injury in infants with intraventricular haemorrhage: mechanisms and therapies.

• DOI: 10.1038/s41582-020-00447-8
• 发表时间: 2021-04
• 期刊: Nature reviews. Neurology
• 作者: Ballabh P;de Vries LS
• 通讯作者: de Vries LS

A case of sporadic Peutz-Jeghers syndrome presenting as multiple intussusceptions.

• DOI: 10.1093/jscr/rjac070
• 发表时间: 2022-03
• 期刊: Journal of surgical case reports
• 影响因子: 0.5
• 作者: Gorji L;Huish G;Morgan J;Levy P
• 通讯作者: Levy P

Is Pre-Symptomatic Immunosuppression Protective in CSF1R-Related Leukoencephalopathy?

在CSF1R相关的白细胞病变中，症状前免疫抑制是否存在？

• DOI: 10.1002/mds.28515
• 发表时间: 2021-04
• 期刊: Movement disorders : official journal of the Movement Disorder Society
• 作者: Tipton PW;Stanley ER;Chitu V;Wszolek ZK
• 通讯作者: Wszolek ZK

Serotonin and Dopamine Mimic Glucose-Induced Reinforcement in C. elegans: Potential Role of NSM Neurons and the Serotonin Subtype 4 Receptor.

• DOI: 10.3389/fphys.2021.783359
• 发表时间: 2021
• 期刊: Frontiers in physiology
• 影响因子: 4
• 作者: Schwartz EKC;Sosner EN;Desmond HE;Lum SJ;Sze JY;Mobbs CV
• 通讯作者: Mobbs CV

GUÍA: a digital platform to facilitate result disclosure in genetic counseling.

• DOI: 10.1038/s41436-020-01063-z
• 发表时间: 2021-05
• 期刊: Genetics in medicine : official journal of the American College of Medical Genetics
• 作者: Suckiel SA;Odgis JA;Gallagher KM;Rodriguez JE;Watnick D;Bertier G;Sebastin M;Yelton N;Maria E;Lopez J;Ramos M;Kelly N;Teitelman N;Beren F;Kaszemacher T;Davis K;Laguerre I;Richardson LD;Diaz GA;Pearson NM;Ellis SB;Stolte C;Robinson M;Kovatch P;Horowitz CR;Gelb BD;Greally JM;Bauman LJ;Zinberg RE;Abul-Husn NS;Wasserstein MP;Kenny EE
• 通讯作者: Kenny EE