• |
  • |
  • |
  • |
Donate

Rose F. Kennedy Intellectual and Developmental Disabilities Research Center

Albert Einstein College of Medicine
1410 Pelham Parkway South
Bronx, NY, 10461
718-430-3787

The Rose F. Kennedy Intellectual and Developmental Disabilities Research Center (RFK-IDDRC) and its programs represent the hub of Einstein's research labs and patient clinics focused on intellectual and developmental disabilities (IDDs). Founded more than 40 years ago, the RFK-IDDRC has long been at the forefront of research on normal and abnormal brain development and function, and of clinical care for children with IDDs. Today, with reinvigorated leadership, the RFK-IDDRC is dissolving barriers between neuroscience and genetic research; fostering new and productive collaborations between basic scientists and clinicians; and advancing knowledge about and treatments for IDDs impacting children.

With access to state-of-the-art equipment and techniques, RFK-IDDRC scientists are leading the way in research on autism, Rett, Fragile X, Niemann-Pick C and other genetic and neurometabolic disorders, on seizure disorders, on deafness and communication disorders and on understanding the impact of the environment and nutrition on brain development and maturation. Bridges built between RFK-IDDRC investigators and clinicians also are allowing advancement of translational studies designed to bring bench research discoveries to the bedside as new and innovative therapies.

Einstein's Kennedy Center is also one of the oldest designated University Centers for Excellence in Developmental Disabilities Research, Education and Service (UCEDD) funded by the Department of Health and Human Services. Significantly, the Kennedy IDDRC also has intimate links to the UCEDD's clinical arm, Einstein's Children's Evaluation and Rehabilitation Center (CERC), which provides clinicians and investigators the challenge and opportunity to work with large numbers of IDD-related conditions in the genetically diverse and socioeconomically compromised population of the Bronx. The UCEDD is also home to the Leadership Education in Neurodevelopmental Disabilities (LEND) Program, one of only 38 in the United States, which supports interdisciplinary clinical training for medical and allied health professionals who care for individuals with special healthcare needs. The Rose F. Kennedy Center is one of only a handful of centers in the nation with connections to all three of these important programs.

CORE(s)

Core values are the internal compass of fundamental principles that drive the work of IDDRCs.

URL: http://einstein.yu.edu/centers/iddrc/research-cores/animal-behavior.aspx

Description

The overarching mission of the Animal Behavior (AB) Core is to assist investigators seeking to discover behavioral, physiological and metabolic phenotypes in diverse rodent models of intellectual and developmental disabilities. To achieve this mission, the core performs studies in mice and rats to identify the functional alterations resulting from genetic, developmental or environmental manipulations that may impair neural and behavioral development. These include changes in developmental milestones, sensorimotor function, cognitive function, affective and social behaviors, feeding and activity patterns, body composition and energy expenditure. To enhance research capabilities specific to IDD-related projects, the RFK-IDDRC leadership has leveraged the resources of two existing Einstein shared resources to form the AB Core. These are the Rodent Behavioral Evaluation Core established by the department of neuroscience and headed by Dr. Gulinello, and the Animal Physiology Core developed by the Diabetes Research and Training Center and headed by Dr. Schwartz. By combining existing core capabilities and experienced faculty from the departments of neuroscience and medicine, we have established an Animal Behavior Core uniquely suited to plan, perform and evaluate coordinated behavioral and metabolic assessments in developing and adult rodents.



Services

AB Core is designed to allow pointed state-of-the-art evaluations of behavioral changes in rodents as models of IDD and/or following testing of new therapeutic strategies for such conditions; Animal Physiology; Rodent Behavioral Evaluation 

  1. To provide a broad range of measurements of developmental milestones, cognitive and sensorimotor function, affective, social and motivated behavior and metabolism in developing and adult rodents
  2. To provide expertise in the design of behavioral, physiological and metabolic studies relevant to the developmental regulation of metabolism and behaviors in all domains
  3. To provide training for students, postdoctoral fellows, investigators and technical staff in experimental assessment of behavior and metabolism in rodent models


Equipment

  • Cognition - Water maze; Object recognition and placement; Conditioned taste aversion; Spontaneous alternation; Labyrinth maze; Social discrimination; Conditioned place preference
  • Sensorimotor - Balance beam; Grip strength; Rotarod; Visual cliff and placing; Gait analysis; Functional observation battery; Open field (activity, habituation and sensitization, risk assessment, anxiety); Treadmills and running wheels
  • Affect/Emotion/Autonomic - Elevated plus maze; Forced swim test; Sociability, social preference, social interactions; Anhedonia; Acoustic startle reflex and sensorimotor gaiting; Operant chambers; Novelty-induced suppression of feeding (depression, anxiety, anhedonia- motivated behavior)
  • Metabolism/Body Composition - Automated food and drink monitors and analysis; Calorimetry chambers and CLAMS systems; ECHO MRI (body composition); Micro CT scanner &mdash (distribution of adipose tissue, adiposity within peripheral organs, and cardiac, bone and CNS morphological assessments)
  • Nociception - Tactile sensitivity
  • Small-animal surgery (chronic implantation of brain ventricular or parenchymal cannula for the targeted delivery of biologically active agents directly into the brain regions of interest)
  • Equipment for brain infusions and indwelling canulae
  • Tracking software and statistical analysis software 


URL: http://einstein.yu.edu/centers/iddrc/research-cores/cell-and-molecular-imaging.aspx

Description

The goal of the Cell and Molecular Imaging (CMI) Core is to provide RFK-IDDRC investigators with a comprehensive package of expert guidance, training and assistance in all types of optical, electron and related microscopy techniques and image processing, together with access to costly state-of-the-art equipment.



Services

  1. To provide consultation on experimental approaches and design
  2. To provide training and assistance with specimen preparation and data acquisition
  3. To provide training and assistance with data analysis
  4. To provide top-quality and readily accessible graphics services


Equipment

  • Optical Imaging Facility
  • Electron Microscopy Facility
  • Laser Capture and Microdissection Facility
  • Image Analysis and Graphics Facility


URL: http://einstein.yu.edu/centers/iddrc/research-cores/human-clinical-phenotyping.aspx

Description

The Human Clinical Phenotyping (HCP) Core is designed to build a clinical IDD database for use by IDDRC investigators.

Objectives

  1. To provide sophisticated phenotyping of participants for RFK-IDDRC investigators, including evaluations of cognition, language, behavior and clinical diagnosis, all performed by our highly qualified clinicians
  2. To facilitate diversity in research by recruiting from the local Bronx community
  3. To maintain an extensive research-participant database (currently containing 600-plus children) to service important IDD research endeavors
  4. To serve as the coordinating hub of the three IDDRC cores that collect human data; indexing when genetic samples are collected by the Neurogenomics Core and when neuroimaging data are collected by the Translational Neuroimaging Core, for a given HCP registrant
  5. To develop cutting-edge measures of IDD-relevant phenotypes, such as repetitive movements (Dr. Sylvie Goldman) and multisensory processing (Dr. John Foxe)


Services

  • Internet-accessible deidentified participant registry database
  • Participant recruitment
  • Research-grade clinical diagnosis
  • Neuropsychological testing
  • Evaluation of peripheral and central auditory processing
  • Collection of biosamples
  • Assistance with IRB applications for studies involving children


URL: http://einstein.yu.edu/centers/iddrc/research-cores/neurogenomics.aspx

Description

The goal of the Neurogenomics Core is to provide the most advanced genomics and epigenomics assays and analyses to support the neurological and neuroscience research goals of the IDDRC community at the RFK-IDDRC. Modern neuroscience and neurology research has an increasing need for sophisticated genome-wide genetic and epigenetic assays in the quest to understand not only disease states but also the normal functioning of the nervous system. With the goals for the IDDRC encompassing areas such as the study of the pathogenesis of autism; the links among nutrition, obesity and brain development; deafness and communication disorders; and the pathogenesis of neurogenetic disorders, both genetic and epigenetic influences are obvious potential factors that must be considered. A strong cutting-edge Neurogenomics Core that supplies access to the most up-to-date sophisticated genomic technologies in a cost-effective and efficient manner is therefore an essential resource within a center such as this.



Services

  1. To provide prioritized access to the most advanced epigenomic and genomic molecular assays
  2. To provide expert consultation with and training of IDDRC investigators performing these molecular assays
  3. To provide expert consultation on experimental approaches and design
  4. To maintain an advanced bioinformatic data analysis and management system
  5. To provide cost-reduced microgrants to promote pilot and feasibility studies


Equipment

The deliverable goal for the Neurogenomics Core Facility is to allow the investigator to take an interesting experimental question requiring genomic or epigenomic assays, get advice on how to approach the problem, have samples analyzed using powerful technologies and have analyses performed to generate a data set that can be integrated with phenotypic and imaging data.

Massively-parallel sequencing-based assays:

a. Chromatin immunoprecipitation (ChIP) assays:

  • ChIP-seq

b. Cytosine methylation assays:

  • Restriction enzyme-based (HELP-tagging)
  • Bisulphite-based (MethylC-seq)

c. Transcription assays:

  • Directional transcriptome sequencing
  • RNA-seq
  • miRNA-seq

d. Genomic sequencing assays:

  • Whole genome resequencing
  • Targeted resequencing using capture techniques
  • De novo sequencing and assembly

Other genomics assays:

  • SEQUENCING, Traditional: Plasmid and PCR product sequencing
  • MICROARRAYS: Gene expression, Exon, SNP arrays (Affymetrix)
  • DNA PURIFICATION: Plasmid and PCR product purification
  • FRAGMENT ANALYSIS: High-resolution fluorescent electrophoresis
  • PYROSEQUENCING: SNP typing and CpG methylation
  • SEQUENOM: SNP typing, CpG methylation, Gene expression
  • REAL-TIME PCR: Sybr Green and Taqman assays
  • BIOANALYZER: RNA QC

 

 



URL: http://einstein.yu.edu/centers/iddrc/research-cores/tissue-engineering-cellular-reprogramming.aspx

Description

The Tissue Engineering and Cellular Reprogramming (TECR) Core provides innovative and state-of-the-art interdisciplinary expertise, equipment, essential molecular, cellular and systems-level reagents and associated equipment and dedicated space techniques for the study of cell and tissue preparations from both human and animal models of intellectual and developmental disorders. These services are designed to facilitate research projects employing a wide variety of experimental approaches ranging from the use of cellular and molecular biology techniques, genomic, epigenomic and systems biological analyses and neurophysiological approaches to the study of distinct animal and human cellular and tissue preparations. The core supplies these services in conjunction with other RFK-IDDRC core facilities and specialized support services by providing extensive training, oversight, facilities and novel and unique resources to expedite these interdisciplinary goals.



Services

  1. To provide state-of-the-art equipment and expertise to facilitate the study of a broad variety of cell and tissue types from individuals with intellectual and developmental disabilites as well as from cell and animal models
  2. To facilitate combined use of in vitro and in vivo approaches to study individual genes and epigenetic modulators during brain development in health and genetic disease
  3. To develop novel therapeutic strategies and promote neural cell protection and/or neural regeneration through genetic and epigenetic cellular reprogramming and tissue engineering


Equipment

  • In vitro dissociated cell culture, slice and organotypic and whole embryo cultures
  • Embryonic stem (ES) cell experimental applications
  • Viral vector cellular manipulations for in vitro and in vivo applications
  • Human fetal cell experimentation
  • Fluorescence-activated cell sorting (FACS) for analytical and preparatory experimental approaches
  • Quantitative analysis of gene expression


URL: http://einstein.yu.edu/centers/iddrc/research-cores/translational-neuroimaging.aspx

Description

The Translational Neuroimaging (TNI) Core provides IDDRC investigators access to state-of-the-art, in vitro multimodality whole-organism imaging from mouse to human, with special facilities to accommodate pediatric subjects. In addition to state-of-the art hardware, software and applications, this core provides essential collaborative human resources to support the design, implementation and acquisition and analysis phases of neuroimaging investigation. As such, the TNI core is one arm of a comprehensive effort by multiple IDDRC cores to develop a broad, deep and accessible repository of human and animal data relating to normal development and disease states. The focal point of this core is the Gruss Magnetic Resonance Research Center (MRRC), which houses 9.4 Tesla small animal and 3.0 Tesla human MRI systems, as well as extensive support facilities.



Services

  1. To provide IDDRC members with turnkey access to state-of-the-art human and animal imaging optimized to address their unique experimental needs
  2. To educate and train IDDRC members and their trainees in the design, execution and analysis of imaging experiments
  3. To develop a broad, deep and accessible repository of human and animal data relating to normal development and disease states, in concert with the other IDDRC cores
  4. To develop novel data acquisition and analysis methods relevant to IDDRC members' projects


Equipment

Human MRI: The MRI system is extremely versatile and fully capable of imaging all body parts. Of particular relevance to the IDDRC, the MRI system is capable of absolutely state-of-the-art neuroimaging. Virtually any measurement conceivable can be implemented by MRRC scientists, who have full programming access to the MRI hardware and extensive pulse programming expertise. The following are representative examples of neuroimaging measurements relevant to IDDRC research:

  1. High resolution (submillimeter) 3D structural imaging
  2. Quantitative relaxography for tissue characterization
  3. Quantitative diffusion tensor imaging and tractography
  4. Quantitative perfusion imaging, with (DSCE) or without (ASL) contrast agents
  5. High resolution time-resolved magnetic resonance angiography (MRA)
  6. Proton and multinuclear spectroscopic imaging
  7. Functional MRI, with visual and auditory stimuli, real-time subject response monitoring, eye tracking and real-time online data analysis on the MRI console

Animal MRI: The 9.4T spectrometer is capable of nearly any measurement one can envision. Imaging of rats and mice will be most in demand from IDDRC members. However, other small animals such as ferrets can be imaged as well. The following are representative examples of neuroimaging measurements relevant to IDDRC research:

  1. Perfusion imaging
  2. Diffusion imaging
  3. Microscopy imaging
  4. Chemical shift imaging
  5. Metabolic imaging
  6. Spectroscopy
  7. Functional imaging (BOLD) in anesthetized or awake animals
  8. High-speed imaging (EPI, FISP, TurboFlash)