Genetic studies of nonsyndromic clefts in populations of African Descent.

描述(申请人提供)：候选人：Azeez Butali博士，爱荷华州大学卡弗医学院博士后研究员。他的主要研究重点是复杂颅面疾病的遗传学和流行病学，包括口面部裂伤。他的短期职业目标是加深他对复杂颅面特征(如口裂)的遗传学知识，并扩大目前对评估这些特征的分子技术的理解。他的长期目标是成为一名在颅面遗传学和牙科领域获得资助的独立科学家，在一所大学担任终身教职。他的研究计划在使用分子遗传技术研究其他非洲血统人群口面部裂的遗传病因学方面具有创新性，以了解这些复杂的特征。这项研究将利用通过爱荷华州大学颅面研究中心(CARC)的国际遗传流行病学联盟获得的样本。这项研究有可能确定新的涉及口面部裂隙的生物学途径，并将提供有关临床裂隙亚型与全基因组关联研究中重要的SNPs之间相关性的新信息。它还有可能对口腔裂隙的治疗产生直接的临床影响。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充足的全职教授，在培养成功的研究生和博士后方面有25年的经验。头面部遗传学领域的专家安德鲁·利德拉尔博士将担任这一奖项的共同导师。Mary Marazita博士和Adebowale Adeyemo博士将担任该项目的顾问，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，并将在整个获奖期内咨询、建议和评估Butali博士的进展，他们在颅面遗传学、流行病学、牙科和基因组分析方面拥有互补的专业知识。环境：爱荷华大学在成功培养研究生和博士后方面享有盛誉，尤其是在研究和临床领域。该大学提供一系列学习和发展研讨会以及其他专注于职业发展和晋升的计划，特别是受益于CTSA奖项对其临床与翻译科学研究所(ICTS)的支持带来的培训机会。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会面，以获得获得职业和研究目标所需的知识，并参加辅导、课程、研讨会和相关会议。研究研究：本研究的重点是通过确定在非洲同种人群中导致口裂的基因变异，了解口裂的复杂遗传病因学，并将这些发现与疾病的预防和临床处理联系起来。

DESCRIPTION (provided by applicant): 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.