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Del Monte Institute for Neuroscience / IDD Research Center / Scientific Cores / Human Phenotyping and Recruitment

 

Human Phenotyping and Recruitment

child with care giver

Director: Leona Oakes, PhD, Co-Director: Alexander Paciorkowski, MD

More information: Lauren Hearter

Mission of the Human Phenotyping & Recruitment (HPR) Core  

  1. To network across faculty, staff, and fellows who are experienced in the assessment of individuals with complex neurodevelopmental conditions
  2. To provide investigators with access to high quality phenotyping and clinical assessment services, along with comprehensive resources for research design consultation, participants recruitment, and investigator training
  3. To build a collaborative relationship between IDD researchers at the university and the surrounding community

Ultimately, the services provided by HPR enables the translation of pre-clinical discovery into meaning therapies that improve the lives of individuals with IDDs and their families.

Objectives

child watering a plantThe University of Rochester Intellectual and Developmental Disabilities Research Center (UR-IDDRC) Human Phenotyping and Recruitment (HPR) Core provides investigators with priority access to high quality phenotyping and clinical assessment services, along with comprehensive resources for research design consultation, subject recruitment, and investigator training. The services provided by the HPR Core are central to clinical and translational research conducted by IDDRC investigators. The centralized infrastructure and provision of HPR services with expert faculty guidance ensures efficient and high-quality data ascertainment for the timely execution of research and dissemination of results. The HPR Core is supported by dedicated administrative and technical faculty and staff to provide customized, critical consultation in the design and implementation of studies involving clinical assessment, including standardized assessment conducted with the rigor required for research, that spans the range of IDD etiologies and clinical manifestations (see Table 1).  The HPR Core is comprised of expert faculty and staff who are highly experienced in assessment of individuals with complex neurodevelopmental conditions. Emphasis is placed on methods that promote optimal integrity of test administration and foster reproducibility, including use of widely accepted common data elements, validated tools, and internal assessments of fidelity and consistency in data acquisition. The HPR Core serves as a key component of the integrated UR-IDDRC system that enables translation of pre-clinical discovery into meaningful therapies that improves the lives of individuals with IDDs and their families.
See Table 1: Sample of Standardized Instruments Used in the HPR.

Early Concept Consultation
Consultation services with HPR Directors and staff are available for investigators who wish to refine research concepts, establish standardized criteria for characterizing participants, define measurement goals, design studies, and/or develop recruitment and study flow plans.

Guidance in Assessment Selection
HPR faculty collaborate with investigators to identify the most valid and reliable outcome measures to address specific research questions, populations, and methodologies. This includes identification of standardized instruments, development of study-specific measures, and novel data collection options with digital tools.  

Standardized Assessment by HPR Staff
We implement valid, standardized approaches to phenotypic characterization using curated methodologies, such as Human Phenotype Ontology24 and the National Human Genome Research Institute-supported PhenX Toolkit as well as digital tools for characterization of dysmorphology. The HPR also works with IDDRC investigators to develop tailored approaches to comprehensive phenotypic assessment. Each individual enrolled in an IDDRC study is assessed through a comprehensive battery of standardized tests, including tests of cognitive abilities, language function, adaptive behavior, and diagnostic tests, tailored to specific study needs. The HPR also offers services related to health economic analysis.

Training in the Administration of Neurobehavioral Assessments
HPR staff are available to train qualified members of research teams in the administration, scoring, and interpretation of standardized tests for purposes of conducting IDD research. This includes all aspects of the standardized testing process that require training and assessment of fidelity, including general test guidelines and research-reliable administration of specific instruments and scoring. In addition to initial training, this service includes ongoing fidelity checks, to minimize risk of drift in administration fidelity through the life of studies. 

Support for Participant Recruitment
A key HPR function is helping IDD researchers recruit research participants in a timely and effective manner from a comprehensive set of resources and contacts, including electronic health record tools, local and national volunteer registries, and relationships with local, regional, and national IDD clinics, foundations, schools and other organizations.

Access to Research Facilities and Resources
IDDRC investigators may use HPR testing facilities designed for comprehensive neuropsychological assessments in children and adults.

How to Access the Core

To request HPR Core services, please complete our HPR Core Request form.

HPR Core Fee Schedule for Chargebacks

Service

HPR Rate/Hr

Initial Study Consultation

No Cost

Ongoing Study Consultation

$100.00

Recruitment

$45.00

On-Site Standardized Assessment

$90.00

Off-Site Standardized Assessment

$100.00 + mileage

Study Team Training

$125.00

Ongoing Maintenance of Test Fidelity

$90.00

Community Outreach and Relationship Building

The HPR core is striving to build long-lasting relationships by creating opportunities for community members to learn more about and to collaborate in IDD research, including

  • Research education for children and community members
  • Consistent outreach regardless of direct research participation
  • Researcher support in incorporating community outreach and collaboration into every step of the research process
  • Research Corners in community spaces

Recent IDD research findings

  • AIR-B Parent Engagement Strategies Review (link to PDF)
  • Modular Approach for Autism Programming in Schools (link to PDF)
  • Parent Training for Feeding Problems in Children with ASD (link to PDF)
  • Auditory Processing of Sound Patterns in Individuals with ASD (link to PDF)

Current IDD studies with active recruitment

  • ACE-3 flyer (link to PDF)
  • Autism and Sensory Processing (link to PDF)
  • Down Syndrome and Brain Injury (link to PDF)
  • Fragile X and Sensory Processing (link to PDF)

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IDD Research Contact Registry
A diverse registry reflecting the full spectrum of diversity and diagnosis of the IDD community in Rochester, inclusive of all race, ethnicities, genders and ages.  This comprehensive registry will allow for streamlined communication between researchers and potential participants. To be contacted about joining the research registry, please email Lauren_Hearter@urmc.rochester.edu or call 585-275-8749