Mechanisms underlying the multifaceted basis of craniofacial dysmorphogenesis

颅面畸形发生的多方面基础机制

• 批准号: 10190896
• 负责人: JOHANN K EBERHART
• 金额: $ 96.76万
• 依托单位: UNIVERSITY OF TEXAS AT AUSTIN
• 依托单位国家: 美国
• 财政年份: 2019
• 资助国家: 美国
• 起止时间: 2019-09-01 至 2027-06-30
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10190896
• 关键词: Congenital Abnormality; Defect; Development; Diagnosis; Dysmorphology; Educational workshop; Ensure; Environment; Fellowship; Genetic; Genetic Counseling; Grant Review; Head; Human; International; Mediating; Mentors; Morphogenesis; Muscle; Process; Publications; Recruitment Activity; Research; STEM field; Scientist; Services; Severities; Signal Transduction; Tendon structure; Training; Translating; United States National Institutes of Health; Work; Zebrafish; austin; base; career; cell type; craniofacial; craniofacial complex; craniofacial development; craniofacial tissue; gene environment interaction; genetic risk factor; human disease; meetings; notch protein; programs; undergraduate student

Craniofacial dysmorphologies are some of the most common human birth defects and can be extremely variable in their severity and extent. Understanding, diagnosing and treating these dysmorphologies requires a detailed understanding of the normal genetic hierarchies, cell signaling and cellular interactions that drive the morphogenesis and integration of the multiple cell types within the craniofacial complex. Genetic and/or environmental perturbations that disrupt these normal processes can cause craniofacial dysmorphologies. Given that human craniofacial birth defects tend to be sporadic and non-syndromic, it is most likely that multifactorial perturbations are the most common cause of these defects. However, there are major gaps in our understanding of the normal processes in craniofacial development. Furthermore, we have very little understanding of how multifactorial interactions disrupt normal development. This R35 proposal will support the unique research program of Dr. Johann Eberhart’s lab. The signaling interactions mediating craniofacial morphogenesis are examined in the first program. The second program examines how craniofacial tissues integrate seamlessly with one another. The third program examines the environmental and gene-environment interactions that can disrupt craniofacial development. Dr. Eberhart is an extremely well trained and productive developmental biologist. He has been supported through various NIH-based mechanisms ever since he was an undergraduate student. He has authored 40 total publications, 28 since establishing his independent lab at UT Austin. He has established himself as a leader in the field of craniofacial development and has pioneering publications on muscle-tendon attachments, zebrafish palatal development and gene-environment interactions. Dr. Eberhart is routinely invited to present the work from his lab at national and international meetings. He is also regularly asked to provide scientific service, such as grant reviews and organizing/participating in scientific workshops. Dr. Eberhart is a tireless mentor. He not only ensures that his trainees research is top notch, but is also deeply engaged with their scientific careers. To date, every one of Dr. Eberhart’s trainees that have been eligible for fellowships have received at least one. Dr. Eberhart is also committed to increasing diversity in STEM fields and actively recruits promising young scientists from diverse backgrounds into the field.

颅面畸形是一些最常见的人类出生缺陷，可以是非常严重的。 其严重程度和程度各不相同。了解，诊断和治疗这些畸形需要一个 详细了解驱动遗传的正常遗传层次、细胞信号传导和细胞相互作用 颅面复合体内多种细胞类型的形态发生和整合。遗传和/或 破坏这些正常过程的环境扰动可引起颅面畸形。 鉴于人类颅面出生缺陷往往是散发性的和非综合征性的，最有可能的是， 多因素扰动是这些缺陷的最常见原因。然而，我们在这方面存在重大差距。 了解颅面发育的正常过程。此外，我们几乎没有 了解多因素相互作用如何破坏正常发育。 这项R35提案将支持Johann Eberhart博士实验室的独特研究计划。信令 在第一个程序中检查介导颅面形态发生的相互作用。第二程序 研究颅面组织是如何无缝结合的第三个程序检查 环境和基因-环境相互作用可能会破坏颅面发育。 博士Eberhart是一位训练有素、多产的发育生物学家。他得到了 从他还是个本科生的时候就开始通过各种基于NIH的机制。他写了40本 总出版物，28自从建立他的独立实验室在UT奥斯汀。他已经确立了自己作为一个 颅面发育领域的领导者，在肌肉肌腱附着方面有开创性的出版物， 斑马鱼腭发育和基因-环境相互作用。埃伯哈特医生经常被邀请 在国内和国际会议上展示他的实验室成果。他还经常被要求提供科学的 服务，如赠款审查和组织/参加科学讲习班。埃伯哈特医生是个不知疲倦的 导师他不仅确保他的学员的研究是一流的，而且还深入参与他们的研究。 科学事业。到目前为止，埃伯哈特博士的每一个有资格获得奖学金的学员都有 收到至少一个。Eberhart博士还致力于增加STEM领域的多样性，并积极招募 来自不同背景的有前途的年轻科学家进入该领域。