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Current Research

In the Heike lab, researchers collaborate with other experts in the Craniofacial Center and the Craniofacial Outcomes Research and Epidemiology (CORE) Group, and with national and international colleagues, to answer pivotal questions related to craniofacial microsomia22q11.2-related disorders and other disorders. Our current research includes:

Facial Asymmetry Collaborative for Interdisciplinary Analysis and Learning (FACIAL)

Dr. Carrie L. Heike and colleagues established this network 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.

Learn more about FACIAL.

Craniofacial Image Repository for Analysis of Shape (CIRAS)

While treatment of craniofacial malformations has dramatically improved in the past two decades, methods for assessment and documentation of craniofacial variation and malformations often rely on non-standardized, subjective descriptions and other antiquated methods. The CIRAS study is modernizing this by developing tools that use 3-D images to measure the severity of craniofacial malformations before and after treatment. This could dramatically improve how we classify and assess craniofacial conditions and treatment outcomes.

Learn more about CIRAS.

Craniofacial Features Normative Database (CFND)

One challenge to understanding and evaluating craniofacial conditions is that we lack well-established, quantitative resources regarding typical craniofacial variation in the general population. To address this lack, the CFND study was initiated in 2006 to establish a database of 3-D surface images of children and adults without craniofacial conditions. These images are used to quantify craniofacial features and serve as control data in studies involving individuals with conditions that affect the head and face.

Our CFND research team and a subset of the participants in the CFND also participate in the FaceBase study, a national study with similar goals.

Learn more about CFND.

CFT22D

This study's primary goal is to identify variations of TBX1 and other genes that may influence the physical characteristics observed in children with 22q11.2 deletion syndrome. The study will also use quantitative assessments based on 3-D images to describe the facial features that often accompany this syndrome.

Craniofacial Microsomia: Longitudinal Outcomes for Children Pre-Kindergarten (CLOCK)

Drs. Carrie Heike and Matthew Speltz are conducting a study to learn more about infants and young children with craniofacial microsomia (CFM). The CLOCK team is looking at the association between facial asymmetry and neurodevelopmental outcomes, as well as hearing loss and neurodevelopmental and social communication outcomes. They want to identify children with CFM who may benefit from early intervention services and to ultimately help parents find appropriate services for their child with this condition.

Learn more about CLOCK.

Infants with Orofacial Clefts: Development and Validation of an Observer-Reported Outcomes Instrument (ICOO)

The ICOO study’s goal is to develop a questionnaire that can be used to improve care for children who have a cleft of the lip or a cleft of the lip and palate.