Human Clinical Phenotyping

The objective of the Human Clinical Phenotyping Core (HCP) is to facilitate research on intellectual and developmental disabilities (IDD) by Einstein investigators. Effective recruitment and clinical and cognitive characterization of participants is essential to a successful human IDD research program. The HCP has an expert staff of highly skilled individuals with years experience in effective participant recruitment and clinical phenotyping. The HCP maintains a centralized easily searchable de-identified database of participants for access by Einstein investigators. The database of over 1500 (mostly children) includes extensive participant information including neuropsychological test results, diagnosis (e.g., autism, ADHD, Rett syndrome, typically developing), body mass index, age, sex, and background, and whether DNA and/or neuroimaging have been collected. These data points serve to identify candidates for research projects, develop hypotheses for new projects, and generate low-cost pilot data for grant applications. Through this database there is opportunity for collaboration to arise among the many Einstein investigators involved in research on IDDs.

Services

Consultation on optimal set of neuropsychological tests for program of research

Participant recruitment

Research-grade clinical diagnosis

Neuropsychological testing

Access to deidentified participant database

Evaluation of peripheral and central auditory processing

Collection of biosamples

Assistance with IRB applications