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Craniofacial Anomalies Research

Craniofacial anomalies are among the most common forms of birth defects. The goal of this research group is to identify both genetic and environmental causes for facial birth defects, with a primary focus on orofacial clefting, including cleft lip and cleft palate. Our center builds upon a 40-year history of clinical and research studies on craniofacial anomalies at The University of Iowa and continues the tradition established over the past decade of interdisciplinary and inter-institutional research. The research includes not only a broad-based internal constituency but collaborative projects and interactions with colleagues in the United States and overseas. These projects offer access to novel populations and innovative techniques. A variety of approaches are utilized, including genetic and epidemiologic studies of human populations, and the development of animal models that are characterized through molecular biological and biochemical analyses, in addition to a variety of sophisticated imaging techniques.

Primary researcher: Dr. Brad A. Amendt
(College of Medicine), joint appointment with the College of Dentistry

Dr. Amendt's research focuses on studying the expression and regulation of transcription factor genes and signaling processes involved in craniofacial/tooth development, the molecular basis of selected human genetic disorders, and the role of stem cells and microRNAs in regulating craniofacial and regenerative medicine.

Primary researcher: Dr. Andrew Lidral
Craniofacial developmental genetics. Specifically, the goal of his projects is to identify the genetic causes of craniofacial birth defects, including syndromic and nonsyndromic forms of orofacial clefting. Ongoing collaborations include researchers in Colombia, South America and Seattle, Washington. We have conducted a scan of the entire genome, looking for regions that are shared more frequently in families with cleft lip and palate. Results of this study have identified multiple regions that contain causal genes. Further exploration of the most significant region discovered a new gene for orofacial clefting that attributes to 50% of orofacial clefts. How this gene is regulated is unknown, which is the current state of knowledge for most genes and a new frontier for human genetics field. To discover regulatory elements we are using zebrafish as a model organism and those identified will be sequenced in affected individuals to determine whether mutations in regulatory elements may be the disease causing mechanism.
Primary researcher: Dr. Lina Moreno-Uribe
Dr. Moreno's research interest focuses on performing a genome-wide search for genes that affect growth of the human face using whole genome association methods and the latest technology for facial imaging. She wants to identify genotype-phenotype correlations that contribute to the development of an individual's maxillo-mandibular complex. This knowledge will likely result in the development of novel orthodontic and maxillofacial therapies that will benefit patients.
Primary researcher: Dr. Jeffrey Murray
(College of Medicine), joint appointment with the College of Dentistry
Molecular genetics and epidemiology of craniofacial birth defects with special emphasis on cleft lip and palate using gene mapping, DNA sequencing and animal models.
Primary researcher: Dr. Sreedevi Srinivasan
Dr. Srinivasan's research has included elucidating the role of various factors involved in the regulation of angiogenesis in normal and pathological conditions, mediated through vascular endothelial growth factor (VEGF) and its receptor (VEGFR-2).