Craniosynostosis | CHOP Research Institute
 

Craniosynostosis

Craniofacial Pathologies

The Craniofacial Pathologies biobank is a research study collecting and storing reamining surgical specimens from the cranium and face from diagnosed patients at CHOP with a congenital craniofacial anomaly.

Translational Research Program in Pediatric Orthopaedics

Translational Research Program in Pediatric Orthopaedics

Understanding the mechanisms by which the skeleton forms and grows in healthy babies and children and using this information to uncover the pathogenesis of rare and common musculoskeletal disorders by working with animal models of the diseases.

Véronique Lefebvre, PhD
Véronique Lefebvre

Dr. Lefebvre investigates the genetic mechanisms that generate the diversity of cell types composing the body. Her emphasis is on deciphering how proteins called SOX transcription factors specify stem cells and highly specialized cells in the skeleton, how changes in these factors cause skeletal diseases, and how these factors also control other processes, including brain development and intellectual disability diseases.

E-mail:
lefebvrev1 [at] chop.edu

CHOP Leads Big Data Collaboration to Uncover Pathways Between Cancer and Birth Defects

Published on
Aug 31, 2018
in Cornerstone Blog
big data
The Kids First Data Resource Portal brings together six institutions, thousands of patients' data, and investigators studying rare disease to one centralized place: the cloud.

Could Noninvasive Eye Imaging Safely Detect Elevated Intracranial Pressure, Without Surgery?

Published on
Apr 18, 2017
in Cornerstone Blog
Eye Imaging
Taking light-wave images of the retina through a process called optical coherence tomography (OCT) shows promise as a safe, noninvasive way to identify elevated intracranial pressure (ICP) in children with subacute conditions such as tumors, hydrocephalus, or head trauma.