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From Prenatal Detection to Innovative Treatment: Advancing Craniofacial Care at CHOP

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From Prenatal Detection to Innovative Treatment: Advancing Craniofacial Care at CHOP
January 15, 2025

By Eric Chien-Wei Liao, MD, PhD, Pediatric Plastic Surgeon-Scientist and Founding Director of the Center for Craniofacial Innovation at Children’s Hospital of Philadelphia 

Patient care at Children’s Hospital of Philadelphia (CHOP) is defined by a comprehensive wraparound approach focused on the needs of patients and families. The collaboration between the Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment (CFDT) and the Neonatal Craniofacial Program embodies this approach in bringing experts together to care for patients and families from the moment of prenatal detection. 

We engage the family as a team before a child’s birth, when families need answers the most. For example, if a prenatal ultrasound detects a facial difference such as cleft lip and palate, the plastic surgery team at CHOP works as an integral part of the CFDT team to provide counseling and help guide families in the child’s journey. Together with the CFDT, the Neonatal Craniofacial Program operates as one of the largest single centers of its kind and provides expert care for each child and their family at every step.

CHOP’s craniofacial care is built upon the values of family focus, clinical excellence and innovation. Driving this innovation is the Center for Craniofacial Innovation (CCI), launched in 2022 to propel foundational research from bench to bedside. The CCI seeks to cultivate research programs with complementary strengths around the theme of craniofacial biology and improving care for craniofacial conditions. 

CCI researchers study how the human face forms, the underlying biology driving craniofacial development, and the underpinnings of craniofacial conditions such as orofacial clefts, craniosynostosis and hemifacial microsomia. To elucidate the genetic drivers of morphogenesis and cellular differentiation, Justin Cotney, PhD, CCI investigator and internationally recognized expert, studies the epigenome of human embryonic development with innovative research on the formation of the face and heart. 

These fundamental discoveries integrate with the clinical research in the Division of Plastic, Reconstructive and Oral Surgery to expand our understanding of craniofacial anomalies, care and treatment. Over the past 14 years, the division’s research teams have contributed more than 500 publications in 96 peer reviewed journals and 143 presentations covering topics in craniofacial surgery and basic biology, with over $13 million in extramural research funding — evidence of world-leading contributions and dedication to improving pediatric health. 

In 2024, the CHOP Research Institute awarded a Frontier Program titled “Advancing Craniofacial Treatment with Genomics and Gene Therapy (ACTG).” This award exemplifies the synergy between the CFDT and the Neonatal Craniofacial Program. The ACTG Frontier Program is led by me, Jesse Taylor, MD, Chief of the Division of Plastic, Reconstructive and Oral Surgery, and William Peranteau, MD, Associate Professor of Surgery and Co-Director of CHOP’s Center for Fetal Research. All three of us are clinician-scientists with decades of expertise in fetal care, human genetics, craniofacial surgery and developmental biology.

The ACTG Frontier Program harnesses genomic technologies to improve diagnostics, predict treatment outcomes, and develop new therapies for children with craniofacial conditions. This focus on genomic technologies is embodied in the ACTG name, representing the four bases which build the DNA genetic code. 

The program follows a child’s journey to conduct craniofacial research. That research translates to cutting-edge clinical care. When a child is born, we carry out deep phenotyping and biospecimen collection of discard specimens for multi-omic analysis. As a child grows, we closely follow up with them to carry out detailed natural history studies and investigate health outcome drivers of care. 

Additionally, we identify the genetic basis of cleft and craniofacial conditions to determine what genes and variants give rise to disease. Where feasible, we have initiated preclinical studies to develop gene therapy approaches to mitigate certain postnatal sequelae of congenital craniofacial conditions.

In these ways, the ACTG Frontier Program exemplifies the rich collaboration between the CFDT and CCI, integrating clinical and research strengths at CHOP to ultimately advance pediatric care for children everywhere.

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