Advances in imaging, genome technology, subclinical phenotyping, embryology and other investigative disciplines have provided unique opportunities for developing a better understanding of mid-face development. Clefts that involve the mid-face, in particular those of the lip and the palate are among the most common birth defects and create life-long challenges for affected individuals. These concerns include repeated surgeries, as well as speech, behavior, dental and long-term health issues such as increased risks for cancer and delayed cognitive development. We have assembled a team of committed and experienced craniofacial researchers, plus experts in bioinformatics and computer science, to develop a Face Base Hub that will facilitate research, clinical, and educational activities related to facial development. Our Face Base team consists of collaborators who have worked well together for many years and who bring far-reaching and complementary expertise to the Hub. Our Hub will provide a Face Base web portal, access to extensive databases of both human and animal model data (such as genotypes, sequence data, expression data, facial images and other phenotypes) and a comprehensive set of web-based tools to enhance research opportunities. It will focus on integrating data from diverse sources and models, and to foster translational research in cleft lip and palate. The Hub will provide a forum for connecting investigators, and opportunities to maintain updated information in real-time on research and clinical aspects of cleft lip and palate. It will include educational and biorepository activities that will enhance clinical and public understanding of, and involvement in, facial research. We will build on existing bioinformatic infrastructures that can be adopted for Face Base, utilizing partnerships with such programs as CaBIG, the UCSC genome-browser, and Wikipedia. The outcome will be a significant increase in the ability to rapidly advance craniofacial research, new educational and outreach activities to enhance public and professional awareness of mid-face defects and a future model for broadening these activities across other dental and craniofacial disorders.

Public Health Relevance

The Face Base Hub will provide a common place to bring together the research and clinical communities involved with cleft lip and palate. It will enable scientists to have easily accessible information even before it is published to foster a sense of common purpose in working on these important birth defects. The Hub will also provide clinical updates and educational materials accessible to families and to researchers.

National Institute of Health (NIH)
National Institute of Dental & Craniofacial Research (NIDCR)
Research Project--Cooperative Agreements (U01)
Project #
Application #
Study Section
Special Emphasis Panel (ZDE1-JH (24))
Program Officer
Scholnick, Steven
Project Start
Project End
Budget Start
Budget End
Support Year
Fiscal Year
Total Cost
Indirect Cost
University of Iowa
Schools of Medicine
Iowa City
United States
Zip Code
Claes, Peter; Roosenboom, Jasmien; White, Julie D et al. (2018) Genome-wide mapping of global-to-local genetic effects on human facial shape. Nat Genet 50:414-423
Indencleef, Karlijne; Roosenboom, Jasmien; Hoskens, Hanne et al. (2018) Six NSCL/P Loci Show Associations With Normal-Range Craniofacial Variation. Front Genet 9:502
Shaffer, John R; Li, Jinxi; Lee, Myoung Keun et al. (2017) Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment. Am J Hum Genet 101:913-924
Kesterke, Matthew J; Raffensperger, Zachary D; Heike, Carrie L et al. (2016) Using the 3D Facial Norms Database to investigate craniofacial sexual dimorphism in healthy children, adolescents, and adults. Biol Sex Differ 7:23
Weinberg, Seth M; Raffensperger, Zachary D; Kesterke, Matthew J et al. (2016) The 3D Facial Norms Database: Part 1. A Web-Based Craniofacial Anthropometric and Image Repository for the Clinical and Research Community. Cleft Palate Craniofac J 53:e185-e197
Shaffer, John R; Orlova, Ekaterina; Lee, Myoung Keun et al. (2016) Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology. PLoS Genet 12:e1006149
Leslie, Elizabeth J; O'Sullivan, James; Cunningham, Michael L et al. (2015) Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders. Am J Med Genet A 167A:545-52
Jia, Zhonglin; Leslie, Elizabeth J; Cooper, Margaret E et al. (2015) Replication of 13q31.1 association in nonsyndromic cleft lip with cleft palate in Europeans. Am J Med Genet A 167A:1054-1060
Leslie, Elizabeth J; Taub, Margaret A; Liu, Huan et al. (2015) Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci. Am J Hum Genet 96:397-411
Wolf, Zena T; Brand, Harrison A; Shaffer, John R et al. (2015) Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate. PLoS Genet 11:e1005059

Showing the most recent 10 out of 39 publications