HUMAN CLINICAL PHENOTYPING CORE

PROJECT SUMMARY/ABSTRACT (CORE B: HUMAN CLINICAL PHENOTYPING CORE – HCP) The objective of the Human Clinical Phenotyping (HCP) Core is to promote excellence in human phenotyping, 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 the HCP provides recruitment and sophisticated human phenotyping services for IDDRC investigators (Aim 1). The HCP implements an extensive program of community outreach and recruitment to increase diversity in research on intellectual and developmental disabilities and expose local children to the wonders of science and research (Aim 2). The HCP maintains an extensive and actively growing database of potential research participants that, in addition to including participant characteristics and clinical and cognitive assessment results, records the presence of neuroimaging data and genetics samples for that participant (Aim 3). This database serves to reduce recruitment and phenotyping costs for investigators, ease the burden of participation for families, and minimize redundant testing efforts across different research groups. De-identified participant information is readily available to IDDRC investigators through this centralized database. The HCP also provides IDDRC members access to state-of-the-art human neuroimaging resources (Aim 4) and engages in the development of next-generation phenotyping tools (Aim 5). The HCP actively disseminates research findings and information about ongoing research projects to the local community, and information about HCP Core resources and opportunities for collaboration to the Einstein/Montefiore researchers and clinicians (Aim 6). Since its inauguration 10-years ago, the HCP has become an integral part of human IDD work at Einstein/Montefiore. For example, it is essential to Einstein’s role in an ‘Autism Centers of Excellence Network’ project on the genetics of autism in individuals of African descent (MH100027), and it has been vital to a number of clinical-research partnerships including a basic neuroscience-HCP collaboration that led to the identification of a novel IDD syndrome (ANKS1B haploinsufficiency syndrome). Under the P50 the HCP will continue to support these interwoven aims to promote the mission of the RFK IDDRC to advance diagnosis, prevention, and treatment of children with IDDs. In addition, it will serve the proposed IDDRC signature Research Project by generating a research database of individuals affected by KDM5C mutations (Aim 7). Through these aims the HCP will maintain its role as the central hub for a variety of Center investigators for whom comprehensive human phenotyping is key to understanding the implications of their work.