Craniofacial Anomalies and Regeneration

National Institute Of Dental & Craniofacial Research

Investigators

Linked publications, trials & patents

Abstract

The Craniofacial Anomalies and Regeneration Section (CARS) successfully underwent review in 2020. The review demonstrated the progressive development of the Lee Lab which required the formation of a new lab, new lab members, new clinical research protocol and first craniofacial anomalies team at NIH, new surgical team to manage craniofacial/dentofacial deformities at the NIH Clinical Center. Goal 1) examine and characterize both common and rare craniofacial anomalies through technologies including 3D imaging, musculoskeletal function assays, and genomic analysis to allow us to diagnosis, predict, and treat these conditions. We have been characterizing patient cohorts with craniofacial and oral dysmorphology. Two specific conditions/diseases include Loeys-Dietz syndrome and dentofacial deformities, and more recently patients with osteogenesis imperfects. We have a Natural History Craniofacial Anomalies protocol to allow for 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 perturbations in development of the face and teeth, and the influences that result in dysmorphologies. We are developing a craniofacial database that includes 3D imaging modalities. Using a TGFbeta receptor 2 KI mouse model, we have identified potential downstream effects that result in tooth and craniofacial developmental anomalies that have also been identified in patients. We will be initiating a new clinical trial in OI dental anomalies management with a multi-center OI consortium. 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 temporal and age-related RNA sequence variations to determine the the role of the microniche and its impact on the osteoprogenitors/BMSCs.