SUPPORT FOR THE ROSE F KENNEDY IDDRC P50 - PROJECT SUMMARY/ABSTRACT (OVERALL)
The overarching purpose of the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center
(RFK IDDRC) is to improve the lives of children with intellectual and developmental disabilities (IDDs). Fifty-
plus years of distinguished progress in basic, translational and clinical research as one of NICHD’s flagship
IDDRCs, coupled with important recent faculty recruitments and an historic merger between the Albert Einstein
College of Medicine and its University-Affiliated Hospital, Montefiore Medical Center, offer a solid platform for
continuing excellence in our commitment to IDD research. The Center’s 4 highly integrated scientific Cores
consist of: 1) our clinical translational core known as the Human Clinical Phenotyping (Core B, HCP), which
serves to facilitate both access to and characterization of participants for IDD relevant research; 2) a
Neurogenomics facility (Core C, NGEN) that provides cutting edge epigenetic and genomic processing and
analyses on both human and animal tissues; 3) a Neural Cell Engineering and Imaging facility (Core D,
NCEI) that provides state-of-the-art approaches to brain cell manipulation and visualization; and 4) an Animal
Phenotyping facility (Core E, AP) for evaluation of animal behavior, metabolism and imaging in a manner with
strong parallels to approaches taken in patients accessed through HCP. Each of our scientific Cores is
carefully overseen and monitored by the Administrative Core (Core A, ADM), which also serves as the head
ganglion of the entire IDDRC in its substantial outreach programs to Einstein/Montefiore, the Bronx community
as well as nationally. Each scientific Core has an essential connection to our signature Research Project
which brings together a multidisciplinary team of investigators focused on mechanisms of IDD in children with
mutations in the transcriptional regulator lysine demethylase 5c gene, KDM5C. A central function of the RFK
IDDRC is to promote the substantive links between Einstein research laboratories and clinics at the Children's
Evaluation and Rehabilitation Center (CERC) and the Children’s Hospital At Montefiore (CHAM). Together, our
Cores and research project form a dynamic network – a community – of IDD-focused programs and practices
that interlink 18 different academic departments, >100 IDDRC members and 20-plus IDD-relevant clinics at
Einstein and Montefiore. The latter include 22q11.2DS, Rett and Williams syndromes, tuberous sclerosis,
neurofibromatosis, West syndrome and infantile spasms, autism spectrum disorders, and a wide range of
neurometabolic disorders. New initiatives moving forward at this time include our unique precision
medicine/community outreach program we call Operation IDD Gene Team, our goal to fortify ties with our
Einstein clinical partner (CERC and its affiliated UCEDD and LEND programs) under the umbrella of the Rose
F. Kennedy Center and a heightened focus on training through our newly established T32 for IDD postdoctoral
fellows.