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Basic Science Cores

Cellular Assay Development and Screening Core

This high-throughput, high-content bioassay core enables researchers to explore the biology of specific disease-related cellular processes and molecules, and to screen for novel compounds that act on them for subsequent drug development. The core is anchored by the Hamamatsu functional drug screening instrument (FDSS 7000E) which, using fluorescence or luminescence, allows for a multiplicity of dynamic cellular assays, including measurements of gene expression levels, changes in membrane potential or concentration of intracellular ions such as Ca2+. Assays can be carried out in primary neurons, stem cell-derived or trans-differentiated neurons or cell lines in a fast, accurate, parallel fashion. The core also provides access to a large collection of compound libraries for screening.

Human Neuron Differentiation Service 

Mustafa Sahin, MD, PhD, and Clifford Woolf, MB, BCh, PhD, Co-Director
This new core will exploit transformative stem cell technology for both modeling of specific diseases and screening of test compounds in human neurons derived from induced pluripotent stem cells (iPSCs). The goals of this service are to: (1) develop standard operating procedures for the generation of different types of neuronal cell lines; (2) create neuronal cell lines from iPSCs derived from patients with specific diseases and from healthy controls; (3) compare key characteristics (e.g. shape, growth, synaptic connectivity, protein composition) of patient-derived and control-derived neurons; (4) identify disease-specific characteristics in patient-derived neurons; (5) screen drug candidates in disease-specific cell lines to greatly increase the speed and specificity of drug discovery; and (6) compare results of these “pre-clinical” drug trials with clinical trials in patients.


Mouse Neurodevelopmental Behavior Core

Michela Fagiolini, PhD, Director
The Mouse Neurodevelopmental Behavioral Core (NBC), launched by the Intellectual and Developmental Disabilities Research Center (IDDRC) at Boston Children’s, is designed to provide a time-efficient, cost-effective service for the comprehensive characterization of complex behaviors in mouse models of neurodevelopmental disorders. The core also provides a means to test novel therapeutic drugs and interventions in mouse models of human disorders, thus increasing the translational research capabilities of all TNC investigators. The core is equipped to: perform extensive batteries of tests of specific social, emotional and cognitive behaviors; conduct assessments of motor, auditory and visual functions; and perform small-animal imaging. The NBC has the important capacity to study developmental milestones, not just “snapshots” in time.


Molecular Genetics Core

Louis Kunkel, PhD, Co-Director

The Molecular Genetics Core Facility of the Intellectual and Developmental Disabilities Research Center (IDDRC) is a non-profit core laboratory in the Division of Genetics and Genomics offering molecular analysis services for research institutions. The overall objective of the Core is to provide a location where researchers can access high quality, low cost molecular services and expertise in a timely, affordable manner. While the majority of Core users are investigators from Boston Children’s Hospital and the surrounding Harvard affiliates, the Core also serves laboratories throughout the United States. The services offered include Sanger DNA sequencing, Next-Gen DNA and RNA sequencing, RNA analysis on Agilent Bioanalyzer, qPCR, RNA expression on Affymetrix and Illumina microarray technology, SNP genotyping and microsatellite genotyping.

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