Statistical Genetic Analysis of Complex Craniofacial and Dental Genetic Disorders

候选人：Manika Govil博士是一名统计遗传学家，目前正在匹兹堡大学牙科医学院颅面和牙科遗传学中心（CCDG）接受博士后培训。她之前的研究重点是后验联系概率（PPL）的扩展，包括对唇裂/腭裂（CL/P）家族数据的贝叶斯再分析。她的短期目标是获得颅面和牙齿遗传（CFDG）疾病的基础知识，特别强调了解CL/P的病因、流行病学和表型。深入了解CL/P和其他复杂的遗传性状对于开发具有计算可行性的方法至关重要，这些方法将能够对数据中的预期异质性进行建模，以确定多基因原因。她的长期目标是成为一名独立的跨学科研究科学家，拥有一个资助的研究项目，该项目将汇集统计学和计算机科学方面的专业知识，以推进我们对CFDG障碍等复杂特征的理解。环境：CCDG正在进行nidcr资助的研究颅面和牙齿疾病的拨款。匹兹堡大学长期以来一直为博士后和研究助理提供卓越的研究和职业发展培训。导师和顾问：Mary Marazita博士将担任本奖项的主要导师。她是几项CFDG资助的首席研究员，并在口腔面部研究方面拥有专业知识。统计遗传学专家维罗妮卡·维兰德（Veronica Vieland）博士将担任该基金的共同导师。她是与复杂性状方法开发相关的赠款以及自闭症和CL/P等复杂性状分析赠款的首席研究员。此外，博士。杰弗里·奥康奈尔和丹尼尔·威克斯将参与戈维尔博士的培训和研究计划。Drs。奥康奈尔和威克斯在统计基因分析的计算方面有专长。研究职业发展计划：除了与导师/顾问在其专业领域进行的一系列教程外，Govil博士还将参加主题领域相关的讲习班，研讨会和社会会议。研究研究：本项目旨在发展计算上可行的统计遗传方法，并将其应用于复杂的CFDG疾病分析。公共卫生相关性：复杂的遗传特征，包括颅面和牙齿遗传疾病，如CL/P，构成了重大的公共卫生负担。该项目的目的是通过开发、实施计算和应用分析、统计方法来进一步了解CL/P和其他复杂性状，这些方法能够模拟可能导致这些性状的遗传因素，以及可能的环境因素。

DESCRIPTION (provided by applicant): Candidate: Dr. Manika Govil is a statistical geneticist currently undergoing postdoctoral training at the University of Pittsburgh School of Dental Medicine's Center for Craniofacial and Dental Genetics (CCDG). Her prior research focuses on extensions of the posterior probability of linkage (PPL), and includes a Bayesian reanalysis of cleft lip with/out cleft palate (CL/P) family data. Her short-term goal is to gain fundamental knowledge of craniofacial and dental genetic (CFDG) disorders, with special emphasis on understanding the etiology, epidemiology, and phenotypes of CL/P. A deeper understanding of CL/P and other complex genetic traits is critical to the development of methods with computationally feasible implementations that will be capable of modeling the expected heterogeneity in the data to identify multigenic causes. Her long-term goal is to become an independent, interdisciplinary research scientist with a funded research program that will bring together expertise in statistics and computer science to advance our understanding of complex traits like CFDG disorders. Environment: CCDG has ongoing NIDCR-funded grants examining craniofacial and dental disorders. The University of Pittsburgh has a long-standing track record of providing postdoctoral fellows and research associates with exceptional research and career development training. Mentors & Consultants: Dr. Mary Marazita will serve as the primary mentor for this award. She is the principal investigator on several CFDG grants, and has expertise in orofacial research. Dr. Veronica Vieland, an expert in statistical genetics, will serve as co-mentor on this grant She is the principal investigator on grants relating to methods development for complex traits, as well as grants for the analysis of complex traits like autism and CL/P. In addition, Drs. Jeffrey O'Connell and Daniel Weeks will contribute to Dr. Govil's training and research plan. Both Drs. O'Connell and Weeks have expertise in computational aspects of statistical genetic analysis. Research Career Development Plan: In addition to a series of tutorials conducted with the mentors/consultants in their areas of expertise, Dr. Govil will also participate in subject area relevant workshops, seminars, and society meetings. Research Study: The aim of this project is to develop computationally feasible statistical genetic methods and apply them to the analysis of complex CFDG disorders. Public Health Relevance: Complex genetic traits including craniofacial and dental genetic disorders like CL/P constitute a significant public health burden. The aim of this project is to further our understanding of CL/P and other complex traits by developing, implementing computationally, and applying in analyses, statistical methods that are capable of modelling genetic factors, with/out possible environmental factors, that may be responsible for such traits.