Genetic studies of nonsyndromic clefts in populations of African Descent.

项目总结 候选人：阿齐兹·布塔利博士是卡弗大学博士后研究员 爱荷华大学医学院。他的主要研究方向是遗传学和流行病学。 包括口面部裂伤在内的复杂颅面疾患。他的短期职业目标是 加深他对复杂颅面特征的遗传学知识，如口面部裂和 扩大目前对分子技术的理解，以评估这些特征。他的长期 目标是成为一名受资助的独立科学家，在头面部遗传学和 牙科作为大学的终身教职教师。他的研究计划在使用分子方面具有创新性 用遗传学技术研究非洲人群口裂的遗传病因学 祖先在其他方面了解这些复杂的特征。本研究将利用样本 通过国际遗传流行病学联合会在颅面部获得 爱荷华大学研究中心(CARC)。这项研究有可能发现新的 涉及口面部裂的生物学途径，并将提供有关相关性的新信息 临床裂隙亚型与全基因组关联产生的显著SNPs之间的关系 学习。它还有可能对口腔颌面外科的治疗产生直接的临床影响。 克利夫茨。导师和顾问：杰弗里·默里博士将担任该奖项的主要导师。 他是爱荷华大学资金雄厚的全职教授，有25年的培训经验 成功的研究生和博士后。安德鲁·利德拉尔博士，这一领域的专家 颅面遗传学，将担任这一奖项的共同导师。玛丽·马拉齐塔博士和阿德波瓦莱博士 Adeyemo将作为该项目的顾问，通过提供临床和统计遗传学 专业知识。Peter Mossey博士、Paul Romitti博士和George Wehby博士将担任外部顾问 成员，并将在整个过程中咨询、建议和评估布塔利博士的进展情况 获奖期内，他们在头面部遗传学、流行病学、 牙科和基因组分析。环境：爱荷华大学已经建立了 成功培养研究生和博士后的声誉，特别是在 研究和临床领域。该大学提供一系列的学习和发展研讨会 以及其他侧重于职业发展和晋升的方案，特别是 从ICTS(临床和翻译研究所)获得的培训机会中受益 科学)由CTSA奖支持。职业发展计划：布塔利博士计划 定期与他的导师、顾问和外部顾问成员一起获取知识 为了达到他的职业和研究目标，以及参加教程、课程、 研讨会和相关会议。研究性研究：本研究的重点是了解 确定导致口裂的遗传变异的复杂遗传病因学 并将这些发现与预防和临床研究联系起来 疾病的管理。

PROJECT SUMMARY Candidate: Dr Azeez Butali is a Postdoctoral Research Scholar at the Carver College of Medicine, the University of Iowa. His primary research focus is on the genetics and epidemiology of complex craniofacial disorders including orofacial clefts. His short-term career goals are to deepen his knowledge of the genetics of complex craniofacial traits such as orofacial clefts and expand current understanding of molecular techniques to evaluate these traits. His long-term goals are to become a funded independent scientist in the fields of craniofacial genetics and dentistry as tenure-track faculty at a University. His research plan is innovative in using molecular genetic techniques to investigate the genetic etiology of orofacial clefts in populations of African ancestry in other to understand these complex traits. This research will utilize the samples obtained through the International Genetic Epidemiology Consortium at the Craniofacial Research Center (CARC), University of Iowa. This research has the potential of identifying new biological pathways involved in orofacial clefts and will provide new information on correlation between clinical cleft sub-phenotypes and significant SNPs arising from genome wide association studies. It also has the potential of having direct clinical impact on the management of orofacial clefts. Mentors and Consultants: Dr. Jeffrey Murray will serve as primary mentor on this award. He is a well-funded full professor at the University of Iowa with 25 years of experience in training successful graduate and postdoctoral students. Dr. Andrew Lidral, an expert in the field of craniofacial genetics, will serve as co-mentor to this award. Drs. Mary Marazita and Adebowale Adeyemo will serve as consultants on this project by providing clinical and statistical genetic expertise. Drs. Peter Mossey, Paul Romitti and George Wehby will serve as external advisory members and will consult with, advice and evaluate the progress of Dr. Butali throughout the award period and they have complementary expertise in the craniofacial genetics, epidemiology, dentistry and genomic analysis. Environment: The University of Iowa has an established reputation for the successful training of graduate and postdoctoral students, particularly in research and clinical areas. The University offers a range of learning and development seminars as well as other programs focused on career development and advancement, and particularly benefits from training opportunities deriving from its ICTS (Institute for Clinical and Translational Sciences) support by a CTSA award. Career Development Plan: Dr. Butali plans to meet regularly with his mentors, consultants and external advisory members to gain the knowledge necessary to obtain his career and research goals as well as attending tutorials, courses, seminars and relevant conferences. Research Study: The focus of this study is to understand the complex genetic etiology of orofacial clefts by determining the genetic variations that contributes to it in homogenous African populations and relate these findings to prevention and clinical management of the disease.