Craniofacial Anomalies and Regeneration

颅面异常与再生

• 批准号: 9567420
• 负责人: Janice Lee
• 金额: $ 61.25万
• 依托单位: NATIONAL INSTITUTE OF DENTAL & CRANIOFACIAL RESEARCH
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/9567420
• 关键词: Aging; Animals; Biological Markers; Bone Marrow Examination; Bone Regeneration; Cell physiology; Clinical Research; Clinical Treatment; Craniofacial Abnormalities; DNA Sequence Alteration; Databases; Development; Diagnosis; Dysmorphology; Environment; Face; Genomics; Genotype; Goals; Natural History; Natural regeneration; Operative Surgical Procedures; Oral; Patients; Phenotype; Pre-Clinical Model; Protocols documentation; Risk; Stem cells; Technology; Three-Dimensional Imaging; Translational Research; cohort; craniofacial; epigenetic variation; imaging modality; skeletal abnormality

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.

目标1）通过包括3D成像和基因组分析在内的技术检查和表征常见和罕见的颅面异常，以使我们能够诊断，预测和治疗这些疾病。 我们已经与各种临床研究团队合作，开始描述其患者同类群体的颅面和口腔畸形学。 我们启动了具有IRB批准的自然史颅面异常方案。 有了该协议，我们正在进行全面的评估和分析以关联表型和基因型。 通过这些方案，我们正在研究和比较跨基因突变的颅面畸形性畸形，以了解面部的发展以及导致畸形的影响。 我们正在开发一个包括3D成像方式的颅面数据库。 目标2）研究骨再生以确定在各种环境中区分骨再生的机制。 我们已经批准了小型动物方案，这些方案将允许在各种衰老环境中进一步研究骨髓基质/干细胞功能。 我们有第二种小型动物方案，研究了自发骨再生的临床前模型和衰老环境的影响。 在这些临床前模型中的每一个中，我们都在检查表观遗传变异和表达生物标志物。