Craniofacial Program

The Craniofacial Program, a Frontier Program at CHOP, leverages genomic medicine to improve the diagnosis and treatment of craniofacial anomalies. Despite increases in our understanding of the pathogenesis in orofacial clefts (OFC), craniosynostosis (CS), and hemifacial microsomia (HFM), and the surgical management for these conditions, there has been sparse and incomplete translation that connects research discovery with clinical outcomes. This gap in clinical translation underscores the tremendous unmet need to integrate molecular diagnosis into the clinical natural history of disease and treatment outcomes. Solving this problem in craniofacial conditions will generate the tools and approaches that can be readily applied to bridge the genomic translation gap for other congenital conditions, and work toward gene therapies.

This Frontier Program is a collaborative, multidisciplinary program that will integrate CHOP's clinical and research programs in craniofacial care, treatment, and discovery with the following breakthroughs:

• We will generate the largest craniofacial data cohort of OFC, CS, and HFM, where longitudinal natural history of disease is integrated with clinical deep phenotyping and molecular diagnosis.
• We will help providers and patient families anticipate clinical issues using molecular signatures to prognosticate disease characteristics and progression.
• Our integrated molecular and clinical database will further enhance CHOP's position as the leading referral center for craniofacial care and research.
• Our team will identify craniofacial anomalies amenable to gene and cell therapy approaches to establish the clinical translation pathway for future gene and cell therapy projects.

These synergistic breakthroughs will enable the infrastructure, personnel, and data that our team will leverage to initiate first-in-child clinical gene and molecular therapy trials.

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