Genetic studies of nonsyndromic clefts in populations of African Descent.

非洲人后裔非综合征性裂隙的遗传学研究。

• 批准号: 8226612
• 负责人: Azeez Butali
• 金额: $ 12.46万
• 依托单位: UNIVERSITY OF IOWA
• 依托单位国家: 美国
• 财政年份: 2012
• 资助国家: 美国
• 起止时间: 2012-01-04 至 2013-12-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8226612
• 关键词: Affect; Africa; African; African American; American; Area; Award; Biological; Candidate Disease Gene; Cleaved cell; Clinical; Clinical Management; Clinical Sciences; Collection; Complex; Consult; DNA; Data; Dentistry; Development; Development Plans; Disease; Enrollment; Environment; Environmental Risk Factor; Epidemiologic Studies; Epidemiology; Ethiopia; Etiology; Faculty; Family; Funding; Genes; Genetic; Genetic Polymorphism; Genetic Predisposition to Disease; Genetic Techniques; Genetic Variation; Genomics; Genotype; Goals; Hereditary Disease; Individual; Institutes; International; Iowa; Knowledge; Learning; Medicine; Mentors; Modification; Molecular; Molecular Genetics; Nigeria; Outcome; Pathogenesis; Pathway interactions; Phase; Phenotype; Play; Population; Population Group; Population Heterogeneity; Population Study; Predisposition; Prevention; Relative (related person); Reporting; Research; Risk; Role; Sampling; Scientist; Sequence Analysis; Students; Study models; Susceptibility Gene; Techniques; Training; Translational Research; Triad Acrylic Resin; Universities; Variant; Work; career; career development; case control; clinical care; college; craniofacial; craniofacial complex; design; disorder risk; experience; genetic epidemiology; genetic variant; genome sequencing; genome wide association study; genome-wide; human disease; improved; innovation; meetings; member; novel; orofacial; professor; programs; research study; sample collection; symposium; tool; trait; transmission process

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. PUBLIC HEALTH RELEVANCE: Understanding the etiology of complex genetic diseases can only be accomplished by studying different population groups with variety of environmental, phenotypic and genetic variables. The focus of this work will be to use the International collaborative network at Craniofacial Research Center (CARC), University of Iowa to obtain samples from African populations in Nigeria and Ethiopia and admixed African-American populations in the U.S.A and as model for studying genetic variations that contribute to the etiology of orofacial clefts in diverse populations. This research will aid in our understanding of the etiology of these complex traits while identifying key genetic and environmental pathways that will inform strategies towards improved clinical care of individuals and ultimately prevention.

描述（由申请人提供）： 候选人：Azeez Butali 博士是爱荷华大学卡弗医学院的博士后研究学者。他的主要研究重点是复杂颅面疾病（包括口面裂）的遗传学和流行病学。他的短期职业目标是加深对口面裂等复杂颅面特征遗传学的了解，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颅面遗传学和牙科领域的一名受资助的独立科学家，成为大学的终身教授。他的研究计划具有创新性，利用分子遗传学技术来研究其他非洲血统人群口颌面裂的遗传病因，以了解这些复杂的特征。这项研究将利用通过爱荷华大学颅面研究中心 (CARC) 国际遗传流行病学联盟获得的样本。这项研究有可能确定与口面部裂相关的新生物学途径，并将提供有关临床裂口亚表型与全基因组关联研究中产生的重要 SNP 之间相关性的新信息。它还可能对口面部裂的治疗产生直接的临床影响。导师和顾问：Jeffrey Murray 博士将担任该奖项的主要导师。他是爱荷华大学一位资金雄厚的正教授，在培养成功的研究生和博士后方面拥有 25 年的经验。颅面遗传学领域的专家 Andrew Lidral 博士将担任该奖项的联合导师。博士。 Mary Marazita 和 Adebowal Adeyemo 将担任该项目的顾问，提供临床和统计遗传专业知识。博士。 Peter Mossey、Paul Rometti 和 George Wehby 将作为外部顾问成员，在整个获奖期间向 Butali 博士提供咨询、建议和评估进展，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，特别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进步的项目，特别受益于由 CTSA 奖项支持的 ICTS（临床和转化科学研究所）提供的培训机会。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，以获得实现职业和研究目标以及参加教程、课程、研讨会和相关会议所需的知识。研究：本研究的重点是通过确定非洲同质人群中导致口面部裂的遗传变异来了解口面部裂的复杂遗传病因，并将这些发现与该疾病的预防和临床管理联系起来。 公共卫生相关性：了解复杂遗传疾病的病因只能通过研究具有各种环境、表型和遗传变量的不同人群来实现。这项工作的重点是利用爱荷华大学颅面研究中心（CARC）的国际合作网络从尼日利亚和埃塞俄比亚的非洲人口以及美国的混合非洲裔美国人群体中获取样本，并作为研究遗传变异的模型这有助于了解不同人群口面部裂缝的病因。这项研究将有助于我们了解这些复杂特征的病因，同时确定关键的遗传和环境途径，为改善个人临床护理和最终预防提供策略。