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FACIAL

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Facial Asymmetry Collaborative for Interdisciplinary Analysis and Learning (FACIAL)

Principal Investigators: Drs. Carrie Heike and Jacqueline Starr

The FACIAL network was established to overcome key barriers to studying craniofacial microsomia (CFM). Traditionally, medical centers have defined cases differently and followed different protocols to treat children and teens with this condition.

The FACIAL team is developing standardized definitions and study protocols to enable clinical research and facilitate multicenter studies in CFM. The network could significantly improve our understanding of the condition’s causes and treatment outcomes by collaborating with healthcare professionals, investigators, individuals with craniofacial microsomia and their families.

FACIAL was established in 2009 as part of the Planning Grant for Genome-Wide Association Study of Craniofacial Microsomia study, RC1 DE 020270.

The FACIAL network includes members from the following institutions

  • Children’s Hospital of Los Angeles (CHLA)
  • Children’s Hospital of Philadelphia (CHOP)
  • Seattle Children’s Hospital (SCH) – coordinating center
  • University of North Carolina (UNC)
  • University of Pittsburgh

Current study goals

  • Recruit 100 children with CFM, along with their parents and unrelated controls. As part of this work we have:
    • Standardized case phenotyping methods
    • Refined the inclusion and exclusion criteria
    • Estimated participation rates
  • Develop an operations manual that specifies rigorous protocols for all study procedures
  • Develop a data infrastructure to manage all aspects of data collection and participant tracking.
  • Conduct multi-center reliability studies regarding each data collection component.

Next steps

  • Expand the current multi-center network
  • Facilitate future research into etiology, history and treatment outcomes in CFM
  • Develop mechanisms to facilitate longitudinal follow-up

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