Matrix Metalloproteinase Gene Variants and Cleft Lip and Palate

简介（由申请人提供）：候选人：Ariadne Letra博士，美国匹兹堡大学口腔医学院博士后。她的主要研究兴趣是唇腭裂的遗传学。她的短期目标是提高对这种疾病的多因素病因学的认识，并对复杂的口腔特征进行遗传研究。候选人还希望获得高级统计遗传学和分子生物学方面的专业知识，以开发生物功能分析。她的长期目标是成为一名独立的科学家，并在某个机构获得终身职位。这一建议反映了候选人从事导师研究的计划，同时为职业发展奠定了坚实的基础。该研究计划具有创新性，因为它提出研究基质金属蛋白酶基因家族，该基因已被证明在颅面发育过程中起重要作用，并与唇腭裂有关。候选人有重要的初步数据来进一步支持这些证据。导师：Dr. Alexandre Vieira将是这个提案的主要导师。他是一项扩大唇裂基因研究中唇裂表型的拨款的首席研究员，在颅面和牙齿遗传疾病的研究方面有很多专业知识，并发表了令人印象深刻的重要论文。玛丽·马拉齐塔博士将是这项提案的共同导师。她是统计遗传学方面的专家，也是一位公认的、资金充足的研究人员。她在指导学员方面有丰富的经验。环境：匹兹堡大学长期以来一直为博士后提供卓越的研究和职业发展培训，并为成功过渡到独立研究人员提供极大的支持。在奖学金的指导阶段后，口腔医学院将全力为候选人提供助理教授职位。研究计划：K99期的具体目标包括重复先前的发现，研究与裂裂相关的所有基质金属蛋白酶基因的多态性，同时提高研究设计和统计技能。在ROD阶段，候选人希望进行功能分析以测试遗传变异的生物学效应。职业发展计划：候选人计划用研究计划来跟踪自己作为科学家的进步。导师团队的承诺将为候选人提供关于职业培训的科学改进和进步的频繁评估。

DESCRIPTION (provided by applicant): Candidate: Dr. Ariadne Letra is a Postdoctoral Associate fellow at the University of Pittsburgh School of Dental Medicine. Her main research interests are genetics of oral-facial clefts. Her short-term goals are to improve knowledge of the multifactorial etiology of this condition and perform genetic studies of complex oral traits. The candidate also wishes to gain expertise in advanced statistical genetics and molecular biology to develop biological functional assays. Her long-term goal is to become an independent scientist and occupy a tenure track position at an Institution. This proposal reflects the plan of the candidate to engage in mentored-research meanwhile building a strong foundation for career development. The research plan is innovative as it proposes to study the family of matrix metalloproteinase genes which have been shown to have important roles during craniofacial development and implicated in cleft lip/palate. The candidate has important preliminary data that further support such evidence. Mentors: Dr. Alexandre Vieira will be the primary mentor for this proposal. He is the principal investigator on a grant for the expansion of the cleft phenotype in genetic studies of oral clefts and has a lot of expertise in studies with craniofacial and dental genetic disorders, with an impressive record of important publications. Dr. Mary Marazita will be the co-mentor for this proposal. She is an expert in statistical genetics and an acknowledged and well-funded researcher. She has extensive experience with mentoring trainees. Environment: the University of Pittsburgh has a long-standing track record of providing postdoctoral fellows with exceptional research and career development training, and offers great support for a successful transition into independent researcher. The School of Dental Medicine is fully committed to providing the candidate with an assistant professor position following the mentored-phase of the award. Research plan: specific aims for the K99 phase include replicate previous findings and investigate polymorphisms in all matrix metalloproteinase genes in association with clefting meanwhile improving skills in research design and statistics. For the ROD phase, the candidate wishes to perform functional assays to test the biological effects of genetic variants. Career Development Plan: the candidate plans to use the research plan to track her own progress as a scientist. Commitment of the mentor team will provide the candidate with frequent evaluations regarding scientific improvement and progress in career training.