Profile

Carrie L. Heike, MD, MS

Carrie L. Heike, MD, MS

Craniofacial

On staff since July 2006

Academic Title: Associate Professor

Research Center: Center for Clinical and Translational Research

Carrie L. Heike, MD, MS, is an attending physician at Seattle Children's Hospital and associate professor in the Department of Pediatrics at the University of Washington School of Medicine. She completed her clinical fellowship in the Craniofacial Center at Seattle Children's Hospital in 2006. Her research focuses on the genetic epidemiology of craniofacial conditions.

Dr. Heike is currently a co-principal investigator on a multi-center study to investigate the etiology and clinical outcomes for individuals with craniofacial microsomia. She also has a special interest in working with children with 22q11.2 deletion syndrome and co-directs the Seattle Children's 22q Clinic. She is investigating the genetic variation in children with this syndrome and aims to understand whether this variation contributes to the development of craniofacial anomalies in 22q11.2 deletion syndrome. She is also using three-dimensional imaging combined with anthropometry to quantify the craniofacial variation in conditions that affect craniofacial structures.

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

Craniofacial Medicine, 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.

About My Work

http://www.seattlechildrens.org/research/clinical-and-translational-research/heike-lab/

Research Focus Area

Epidemiology, Genetics and Developmental Biology, Craniofacial

Awards and Honors

Award Name Award Description Awarded By Award Date
1st Place Journal Award, American Society of Plastic Surgical Nurses 2010
Elected to the Society for Pediatric Research 2010
Young Investigator Award, Childrens Hospital and Regional Medical Center 2006 - 2008
Young Investigator Research Grant, American Academy of Pediatrics, Section on Genetics and Birth Defects 2004 - 2005
Frederic C. Moll Prize in Pediatrics 2000
Scott Greenwood Memorial Scholarship 1998
University of Washington Womens Varsity Crew Scholarship Award 1994 - 1996

Publications

  • Luquetti DV, Saltzman BS, Heike CL, Sie KC, Birgfeld CB, Evans KN, Leroux BG
    Phenotypic sub-grouping in microtia using a statistical and a clinical approach.
    25655944 American journal of medical genetics. Part A , 2015 Apr, : 167(4)688-94
  • Tse R, Booth L, Keys K, Saltzman B, Stuhaug E, Kapadia H, Heike C
    Reliability of nasolabial anthropometric measures using three-dimensional stereophotogrammetry in infants with unrepaired unilateral cleft lip.
    24675205 Plastic and reconstructive surgery , 2014 Apr, : 133(4)530e-42e
  • Wang KH, Heike CL, Clarkson MD, Mejino JL, Brinkley JF, Tse RW, Birgfeld CB, Fitzsimons DA, Cox TC
    Evaluation and integration of disparate classification systems for clefts of the lip.
    24860508 Frontiers in physiology , 2014 : 5163 PMCID: PMC4030199
  • Birgfeld CB, Saltzman BS, Hing AV, Heike CL, Khanna PC, Gruss JS, Hopper RA
    Making the diagnosis: metopic ridge versus metopic craniosynostosis.
    23348281 The Journal of craniofacial surgery , 2013 Jan. : 24(1)178-85
  • Brinkley JF, Mejino JL, Detwiler LT, Travillian RS, Clarkson M, Cox T, Heike C, Cunningham M, Hochheiser H, Shapiro LG
    Towards understanding craniofacial abnormalities: the ontology of craniofacial development and malformation.
    24303230 AMIA Joint Summits on Translational Science proceedings AMIA Summit on Translational Science , 2013 : 201320 PMCID: PMC3845743
  • Wilamowska K, Wu J, Heike C, Shapiro L
    Shape-based classification of 3D facial data to support 22q11.2DS craniofacial research.
    22086243 Journal of digital imaging : the official journal of the Society for Computer Applications in Radiology , 2012 June : 25(3)400-8 PMCID: PMC3348987
  • Heike CL, Stueckle LP, Stuhaug ET, Pimenta LA, Drake AF, Vivaldi D, Sie KC, Birgfeld CB
    Photographic protocol for image acquisition in craniofacial microsomia.
    22208766 Head & face medicine , 2011 Dec. 30 : 725 PMCID: PMC3286411
  • Birgfeld CB, Luquetti DV, Gougoutas AJ, Bartlett SP, Low DW, Sie KC, Evans KN, Heike CL
    A phenotypic assessment tool for craniofacial microsomia.
    21200224 Plastic and reconstructive surgery , 2011 Jan. : 127(1)313-20
  • Speltz ML, Collett BR, Stott-Miller M, Starr JR, Heike C, Wolfram-Aduan AM, King D, Cunningham ML
    Case-control study of neurodevelopment in deformational plagiocephaly.
    20156894 Pediatrics , 2010 Mar. : e537-42
  • Heike CL, Starr JR, Rieder MJ, Cunningham ML, Edwards KL, Stanaway IB, Crawford DC
    Single nucleotide polymorphism discovery in TBX1 in individuals with and without 22q11.2 deletion syndrome.
    19645056 Birth defects research. Part A, Clinical and molecular teratology , 2010 Jan. : 54-63
  • Heike CL, Cunningham ML, Hing AV, Stuhaug E, Starr JR
    Picture perfect? Reliability of craniofacial anthropometry using three-dimensional digital stereophotogrammetry.
    19935311 Plastic and reconstructive surgery , 2009 Oct. : 1261-72
  • Hopper RA, Aspinall C, Heike C, Andrews M, Sittler B, Saltzman B, Ose M
    What the patients and parents do not tell you-recollections from families following external LeFort III midface distraction.
    19528775 Plastic surgical nursing : official journal of the American Society of Plastic and Reconstructive Surgical Nurses , 2009 Apr, : 29(2)78-85; quiz 86-7
  • Cunningham ML, Heike CL
    Evaluation of the infant with an abnormal skull shape.
    18025930 Current opinion in pediatrics , 2007 Dec. : 645-51
  • Heike CL, Avellino AM, Mirza SK, Kifle Y, Perkins J, Sze R, Egbert M, Hing AV
    Sleep disturbances in 22q11.2 deletion syndrome: a case with obstructive and central sleep apnea.
    17477750 The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association , 2007 May : 340-6
  • Heike CL, Cunningham ML, Steiner RD, Wenkert D, Hornung RL, Gruss JS, Gannon FH, McAlister WH, Mumm S, Whyte MP
    Skeletal changes in epidermal nevus syndrome: does focal bone disease harbor clues concerning pathogenesis?
    16222671 American journal of medical genetics. Part A , 2005 Dec. 1 : 67-77
  • Heike CL, Hing AV, Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP
    Craniofacial Microsomia Overview
    20301754

Research Funding

Grant Title Grantor Amount Award Date
Craniofacial Microsomia: Longitudinal Outcomes in Children pre-Kindergarten (CLOCK) NIH NIDCR $2,730,156 2012 - 2017
Hemifacial Microsomia: Psychosocial and Other Sequelae NIH NIDCR $955,722 Subcontract 2010 - 2015