Statistical Genetic Analysis of Complex Craniofacial and Dental Genetic Disorders

描述(申请人提供)：候选人：马尼卡·戈维尔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齿遗传学中心(CCDG)接受博士后培训。她之前的研究集中在后验连锁概率(PPL)的扩展，并包括对唇裂伴/不伴腭裂(CL/P)家系数据的贝叶斯重新分析。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的病因学、流行病学和表型。对CL/P和其他复杂遗传特征的更深入了解对于开发具有计算可行实现的方法至关重要，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，该项目将把统计学和计算机科学的专业知识结合在一起，以促进我们对CFDG障碍等复杂特征的理解。环境：CCDG有NIDCR资助的持续赠款，用于检查颅面和牙科疾病。匹兹堡大学在为博士后研究员和研究助理提供特殊的研究和职业发展培训方面有着长期的记录。导师和顾问：玛丽·马拉齐塔博士将担任该奖项的主要导师。她是几项CFDG赠款的首席研究员，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·维兰德博士将担任这笔赠款的联合导师。她是与复杂性状的方法开发有关的赠款的首席研究员，以及自闭症和CL/P等复杂性状分析的赠款。此外，杰弗里·奥康奈尔博士和丹尼尔·威克斯博士将为戈维尔博士的培训和研究计划做出贡献。奥康奈尔博士和威克斯博士都在统计遗传分析的计算方面拥有专业知识。研究职业发展计划：除了在他们的专业领域与导师/顾问一起进行一系列的指导外，戈维尔博士还将参加与主题领域相关的研讨会、研讨会和社会会议。研究研究：该项目的目的是开发计算上可行的统计遗传学方法，并将其应用于复杂的CFDG疾病的分析。公共卫生相关性：复杂的遗传特征，包括头面部和牙科遗传性疾病，如CL/P，构成了重大的公共卫生负担。这个项目的目的是通过开发、计算和应用统计方法来加深我们对CL/P和其他复杂性状的理解，这些统计方法能够对可能导致这些性状的遗传因素进行建模，而不考虑/不考虑可能的环境因素。

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.