The objective of the Human Clinical Phenotyping Core (Core B, HCP) is to promote excellence in humanphenotyping, with a central mission to facilitate research on intellectual and developmental disabilities (IDDs)by a diverse interdisciplinary team of investigators across the Einstein/Montefiore campuses. To this end theHCP provides recruitment and sophisticated human phenotyping services for IDDRC investigators (Aim 1). TheHCP implements an extensive program of community outreach and recruitment to increase diversity inresearch on intellectual and developmental disabilities and expose local children to the wonders of science andresearch (Aim 2). The HCP maintains an extensive and actively growing database of potential researchparticipants (Aim 3) that, in addition to including participant characteristics and clinical and cognitiveassessment results, records the presence of neuroimaging data and genetics samples for that participant (Aim4). This database serves to reduce recruitment and phenotyping costs for investigators, ease the burden ofparticipation for families, and minimize redundant testing efforts across different research groups. De-identifiedparticipant information is readily available to IDDRC investigators through this centralized database. The HCPalso provides IDDRC members access to state-of-the-art human neuroimaging resources (Aim 5) and engagesin the development of next-generation phenotyping tools (Aim 6). Since its inauguration 5-years ago, the HCPhas become an integral part of human IDD work at Einstein/Montefiore. For example, it is essential toEinstein's role in an `Autism Centers of Excellence Network' project on the genetics of autism in AfricanAmericans (ACE, P50, MH100027), plays a key role in a recently initiated randomized clinical trial testingefficacy of two behavioral interventions on ASD (R01 HD082814), and has been vital to a number of clinical-research partnerships (including on RETT syndrome and NPC type C disease). Over the next 5-years the HCPwill continue to support these interwoven aims to promote the mission of the RFK IDDRC to advancediagnosis, prevention, and treatment of children with IDDs. In addition, it will serve the proposed IDDRCresearch project by recruiting and phenotyping 22q11.2 deletion syndrome participants (Aim 7). Through theseaims the HCP will maintain its role as the central hub for a variety of Center investigators for whomcomprehensive human phenotyping is key to understanding the implications of their work.
Interagency Autism Coordinating Committee (IACC)
Autism Research Database (AFD)
