Carrie L. Heike, MD, MS

Overview

Board Certification(s)

Pediatrics

Medical/Professional School

University of Washington School of Medicine, Seattle
University of Washington School of Medicine, Seattle, Clinical Genetics

Residency

Pediatrics, University of Washington School of Medicine, Seattle

Fellowship

Medical Genetics, University of Washington, Seattle

Clinical Interests

Research includes whether genetic variation contributes to the development of craniofacial anomalies in 22q11.2 deletion syndrome.

Research Description

My current clinical research focuses on the investigation of the relationship between the genotype and phenotype in children with the 22q11.2 deletion syndrome. My clinical and research training in the Children's Craniofacial Center has provided me the opportunity to work with a number of children with the 22q11.2 deletion and observe the wide variability in clinical phenotype. Within this collaborative environment, I have worked with our multi-disciplinary team to generate hypotheses to further our understanding of the phenotypic variability in this patient-population. Our current research is designed to expand scientific understanding regarding the role of specific genetic variations in the development of craniofacial anomalies within this specific population. To accomplish this goal, we are applying novel methods to quantify the subtle facial features which are affected in some individuals with this condition. We are also resequencing genes in the TBX1 pathway to determine sequence variations that may contribute to the phenotypic variability.

I also participate in research to use advanced technology further quantify the phenotypic features affected in other conditions that alter craniofacial features. Advances in the field of three-dimensional imaging combined with anthropometry now provide opportunities to obtain very objective and specific information in craniofacial features. Our ongoing work to characterize facial features in children with 22q11.2 deletion syndrome incorporates new methods that we hope will also be valuable in quantifying craniofacial variation in other conditions that affect craniofacial structures. We have enrolled over 200 participants in our Craniofacial Normative Database study, and we are developing novel techniques to quantify typical and atypical craniofacial variation.

I work with collaborators at Seattle Children's Hospital, as well as in the Departments of Genome Sciences, Computer Science and Engineering, and Epidemiology at the University of Washington on these projects.

Research Focus Area

Epidemiology, Genetics and Developmental Biology, Craniofacial

Publications

Research Funding