Matrix Metalloproteinase Gene Variants and Cleft Lip and Palate

基质金属蛋白酶基因变异与唇腭裂

基本信息

批准号：
7628542
负责人：
Ariadne M Letra
金额：
$ 8.94万
依托单位：
UNIVERSITY OF PITTSBURGH AT PITTSBURGH
依托单位国家：
美国
项目类别：
财政年份：
2008
资助国家：
美国
起止时间：
2008-06-01 至 2010-05-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/7628542
关键词：
6H,8H-3,4-dihydropyrimido(4,5-c)(1,2)oxazin-7-one Accounting Affect Award Biological Biological Assay Biological Testing Birth Brazil Candidate Disease Gene Cleaved cell Cleft Palate Cleft lip with or without cleft palate Clinical Commit Complex Congenital Abnormality DNA Data Dental Dental Schools Development Development Plans Disease Economic Burden Environment Etiology Evaluation Event Extracellular Matrix Face Family Family Study Foundations Funding Genes Genetic Genetic Counseling Genetic Polymorphism Genetic Predisposition to Disease Genetic Transcription Genetic Variation Genomics Goals Grant Growth Hereditary Disease Homeostasis Hospitals Human In Vitro Incidence Individual Inhibition of Matrix Metalloproteinases Pathway Institution Intervention Investigation Knock-out Knowledge Lip structure Live Birth Matrix Metalloproteinases Medical Medicine Mentors Metalloproteinase Gene Modeling Molecular Molecular Biology Mus Normal tissue morphology Nutritional Oral Organism Organogenesis Palate Pattern Peptide Hydrolases Phase Phenotype Play Population Positioning Attribute Postdoctoral Fellow Predisposition Prevalence Principal Investigator Process Promoter Regions Publications Rehabilitation therapy Reporting Research Research Design Research Personnel Role Saliva Sampling Scientist Secondary Palate Signal Pathway Societies Source Structure Testing Time Tissue Inhibitor of Metalloproteinases Tissues Training Transcriptional Regulation Universities Variant base career career development cleft lip and palate craniofacial dental genetics experience genetic variant high risk human tissue improved innovation interest migration oral cleft palatal fusion palatal shelves palatogenesis post-doctoral training professor programs psychologic research study retinal rods skills statistics trait

项目摘要

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.

描述（由申请人提供）：候选人：Ariadne Letra博士是匹兹堡大学牙科医学院的博士后同学。她的主要研究兴趣是口腔裂缝的遗传学。她的短期目标是提高对这种情况多因素病因的了解，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的专业知识，以开发生物学功能分析。她的长期目标是成为一名独立科学家，并在一个机构占据任期。该提案反映了候选人的计划，同时从事指导研究的计划，为职业发展奠定了坚实的基础。该研究计划具有创新性，因为它建议研究基质金属蛋白酶基因的家族，这些基因在颅面发育过程中具有重要作用，并与唇lip/paple有关。候选人有重要的初步数据，可以进一步支持此类证据。导师：Alexandre Vieira博士将成为该提议的主要导师。他是口腔裂基遗传研究扩展表型的赠款的主要研究者，在患有颅面和牙科遗传疾病的研究方面具有很多专业知识，并具有重要的出版物记录。玛丽·马拉齐塔（Mary Marazita）博士将成为该提案的联合学者。她是统计遗传学的专家，也是公认且资助良好的研究人员。她在指导学员方面拥有丰富的经验。环境：匹兹堡大学拥有长期的记录，为博士后研究员提供出色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了大力的支持。牙科医学学院完全致力于为候选人提供该奖项的助理教授职位。研究计划：K99阶段的具体目的包括复制先前的发现并研究所有基质金属蛋白酶基因中的多态性，同时提高了研究设计和统计的技能。对于杆相，候选人希望执行功能测定以测试遗传变异的生物学作用。职业发展计划：候选人计划使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有关科学改进和职业培训进步的频繁评估。