Craniofacial Program Research Overview

AddtoAny
Share:

WATCH THIS PAGE

Subscribe to be notified of changes or updates to this page.

5 + 4 =
Solve this simple math problem and enter the result. E.g. for 1+3, enter 4.

The Craniofacial Program is generating the world’s largest craniofacial biobank from patient specimens, covering orofacial clefts (OFC), craniosynostosis (CS), hemifacial microsomia (HFM). This biobank will provide critical samples to CHOP and the National Institutes of Health to genetically sequence and provide genomic data for OFC, CS, and HFM.

In addition to collecting biospecimens from patients with orofacial clefts, craniosynostosis, and hemifacial microsomia, this Frontier Program collects deep phenotyping multimodal data with technology such as 3D imaging and facial landmarking. This work will transform our current clinical workflow and enable downstream genomic translation.

Leveraging CHOP’s rich genomic resources and machine learning to integrate genetic, imaging, and clinical data, this Frontier Program connects molecular signatures to natural history, clinical outcomes, and fundamental biology for craniofacial anomalies.

Using sequencing data from the Frontier's biobank alongside CHOP genomic data repositories such as Arcus and the Center for Data-Driven Discovery in Biomedicine, we will identify clinically relevant genes and their variants for each craniofacial condition.

We can then use machine learning to prioritize gene variants, correlate them with clinical imaging and patient outcomes, and functionally validate these variants in laboratory models and experiments.