Abstract

The Developmental Synaptopathies Consortium (DSC) Administrative Unit will facilitate the collaboration and communication of clinical research in the rare diseases of TSC, PTEN and PMS across the ten participating sites. The Administrative Unit will ensure collaboration among Project Leaders, Principal Investigators, and site study staff for the longitudinal research in each of the three identified diseases, the training component, the clinical pilot studies, and the access to information related to the rare diseases for basic and clinical researchers, other health professionals and the public.

Public Health Relevance

The Administrative Unit provides the key framework for success collaboration amongst the investigators involved in this Consortium. The Unit will ensure that research is conducted uniformly across all sites. It will be responsible for creating budgets and allocating funds in a rational, fair and appropriate manner. It will create policies and procedures related to all aspects of the studies, including the pilot projects and the training component.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Specialized Center--Cooperative Agreements (U54)
Project #
1U54NS092090-01
Application #
8912119
Study Section
Special Emphasis Panel (ZTR1)
Program Officer
Mamounas, Laura
Project Start
Project End
Budget Start
2014-09-30
Budget End
2015-07-31
Support Year
1
Fiscal Year
2014
Total Cost
Indirect Cost

  Institution

Name
Children's Hospital Boston
Department
Type
DUNS #
City
Boston
State
MA
Country
United States
Zip Code
02115

  Publications

Khan, Omar I; Zhou, Xiangping; Leon, Jill et al. (2018) Prospective longitudinal overnight video-EEG evaluation in Phelan-McDermid Syndrome. Epilepsy Behav 80:312-320
De Rubeis, Silvia; Siper, Paige M; Durkin, Allison et al. (2018) Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations. Mol Autism 9:31
de Vries, Petrus J; Wilde, Lucy; de Vries, Magdalena C et al. (2018) A clinical update on tuberous sclerosis complex-associated neuropsychiatric disorders (TAND). Am J Med Genet C Semin Med Genet 178:309-320
Modi, Meera E; Sahin, Mustafa (2018) A unified circuit for social behavior. Neurobiol Learn Mem :
Smith, Iris Nira; Thacker, Stetson; Jaini, Ritika et al. (2018) Dynamics and structural stability effects of germline PTEN mutations associated with cancer versus autism phenotypes. J Biomol Struct Dyn :1-17
Nariai, Hiroki; Wu, Joyce Y; Bernardo, Danilo et al. (2018) Interrater reliability in visual identification of interictal high-frequency oscillations on electrocorticography and scalp EEG. Epilepsia Open 3:127-132
Marami, Bahram; Scherrer, Benoit; Khan, Shadab et al. (2018) Motion-robust diffusion compartment imaging using simultaneous multi-slice acquisition. Magn Reson Med :
Modi, Meera E; Sahin, Mustafa (2018) The Way Forward for Mechanism-Based Therapeutics in Genetically Defined Neurodevelopmental Disorders. Clin Pharmacol Ther 104:603-606
Curtin, Paul; Austin, Christine; Curtin, Austen et al. (2018) Dynamical features in fetal and postnatal zinc-copper metabolic cycles predict the emergence of autism spectrum disorder. Sci Adv 4:eaat1293
Rensonnet, Gaëtan; Scherrer, Benoît; Warfield, Simon K et al. (2018) Assessing the validity of the approximation of diffusion-weighted-MRI signals from crossing fascicles by sums of signals from single fascicles. Magn Reson Med 79:2332-2345

Showing the most recent 10 out of 40 publications