Goal 1) examine and characterize both common and rare craniofacial anomalies through technologies including 3D imaging and genomic analysis to allow us to diagnosis, predict, and treat these conditions. We have collaborated with various clinical research teams to begin characterizing their patient cohorts for craniofacial and oral dysmorphology. We have initiated a Natural History Craniofacial Anomalies protocol that has IRB approval. With this protocol in place, we are conducting comprehensive assessments and analyses to correlate phenotype and genotype. Through these protocols, we are examining and comparing the craniofacial dysmorphologies across genetic mutations to understand the development of the facial and the influences that result in dysmorphologies. We are developing a craniofacial database that includes 3D imaging modalities. Goal 2) study bone regeneration to determine the mechanisms that distinguish bone regeneration in various environments. We have approved small animal protocols that will allow further examination of bone marrow stromal/stem cell function in the various aging environments. We have a second small animal protocol that examines a preclinical model of spontaneous bone regeneration and the influence of the aging environment. In each of these preclinical models, we are examining epigenetic variations and expression biomarkers.
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| Young, Nathan M; Sherathiya, Krunal; Gutierrez, Luis et al. (2016) Facial surface morphology predicts variation in internal skeletal shape. Am J Orthod Dentofacial Orthop 149:501-8 |
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| Srour, Marissa K; Fogel, Jennifer L; Yamaguchi, Kent T et al. (2015) Natural large-scale regeneration of rib cartilage in a mouse model. J Bone Miner Res 30:297-308 |
| Yao, William; Bekmezian, Sona; Hardy, Dan et al. (2015) Cone-beam computed tomographic comparison of surgically assisted rapid palatal expansion and multipiece Le Fort I osteotomy. J Oral Maxillofac Surg 73:499-508 |
| Marchegiani, Shannon; Davis, Taylor; Tessadori, Federico et al. (2015) Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. Am J Hum Genet 97:99-110 |
| Lee, Janice S; Collins, Michael T; Somerman, Martha J (2014) Partnerships in rare disorders. J Am Dent Assoc 145:694-5 |
| Lee, Janice S (2014) In search of the highest quality: levels of evidence in oral and maxillofacial surgery. J Oral Maxillofac Surg 72:2102-4 |
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