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Roberts Individualized Medical Genetics Center
The Roberts Individualized Medical Genetics Center (RIMGC) at Children’s Hospital of Philadelphia was established in 2014 as a part of the Division of Human Genetics. It facilitates access to genetic testing across the Hospital and has the expertise to fully explain genetic testing to patients, their families, and clinicians. The Center was endowed through a generous gift by the Roberts family in 2016. That gift and matching funds from CHOP also established a broader Roberts Collaborative for Genetics and Individualized Medicine that will promote synergized pediatric genetics care and research in diagnostics, clinical management, patient support and counseling, resident and medical student training, informatics, and therapeutics.
Research Project Highlights:
Pediatric Genomic Sequencing in Health and Disease
This broad Institutional Review Board protocol allows for the collection, banking, and sharing of de-identified data (clinical and genomic) and biospecimens internally or externally with other academic collaborators or industry partners. The study enrolls participants with any suspected genetic disorder and creates an unprecedented resource for investigators in any specialty. At the RIMGC, we aim to facilitate gene discoveries and translational efforts to develop novel therapeutics and ultimately improve patient care.
Genomics Research and Innovation Network (GRIN)
GRIN establishes a data commons for three premier pediatric academic medical institutions (Children Hospital of Philadelphia, Boston Children’s Hospital, and Cincinnati Children’s Hospital) to share clinical, genomic, and sample metadata to accelerate genomic discovery and foster a culture of data sharing. GRIN is establishing a common infrastructure that facilitates the collaboration and sharing of data among investigators. More information can be found at grinnetwork.org.
NICUSeq is an industry sponsored trial (Illumina) where we are evaluating the clinical utility of whole genome sequencing (WGS) compared to standard of care testing (rapid WGS with results returned in 15 days versus conventional timing for results returned in 60 days) in acutely ill neonates or infants in intensive care units who are suspected to have a genetic condition. Subjects are randomized to either arm, and the study team will measure the impact of WGS utilization in the clinical setting.