Our lab was first formed and functional in November, 2014. The summary includes only the activities since the lab became functional. 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 is awaiting final IRB approval. With this protocol in place, we will be 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 1 approved small animal protocol 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 is undergoing approval that will examine 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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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 |
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