Investigation of Filaggrin Gene Mutations among Latinx patients with Atopic Dermatitis

拉丁裔特应性皮炎患者丝聚蛋白基因突变的调查

• 批准号: 10740811
• 负责人: Zelma Charlotte Chiesa Fuxench
• 金额: $ 17.27万
• 依托单位: UNIVERSITY OF PENNSYLVANIA
• 依托单位国家: 美国
• 财政年份: 2023
• 资助国家: 美国
• 起止时间: 2023-08-17 至 2028-06-30
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10740811
• 关键词: Acute Disease; Adult; African American population; African ancestry; Anxiety; Asian ancestry; Atopic Dermatitis; Award; Biology; Biometry; Board Certification; Candidate Disease Gene; Characteristics; Child; Chromosome 1; Chronic; Clinical; Clinical Research; Collaborations; Complex; Data; Defect; Dermatitis; Dermatologist; Dermatology; Development; Development Plans; Diagnosis; Diagnostic; Disease; Disease susceptibility; Doctor of Medicine; Doctor of Philosophy; Environment; Environmental Risk Factor; Epidemiology; Ethnic Origin; Etiology; European; European ancestry; Feeling suicidal; Flare; Foundations; Functional disorder; Funding; Future; Gene Mutation; Genes; Genetic; Genetic Variation; Genomics; Genotype; Goals; Health Care Costs; Health system; High-Throughput Nucleotide Sequencing; Human; Immune; Immunologic Factors; Individual; Inflammatory; Informatics; Institution; Investigation; Knowledge; Latinx; Latinx population; Master of Science; Mental Depression; Mentors; Mentorship; Mexican; Morbidity - disease rate; Mutation; Native Americans; Onset of illness; Pathogenesis; Pathogenicity; Patient Care; Patients; Pennsylvania; Population; Prevalence; Prevention; Prevention strategy; Production; Proteins; Pruritus; Puerto Rican; Quality of life; Race; Research; Research Personnel; Residencies; Resources; Risk; Scientist; Series; Severities; Severity of illness; Skin; Sleep Deprivation; Statistical Methods; Susceptibility Gene; Symptoms; Therapeutic; Time; Training; United States; Universities; Variant; Work; burden of illness; care systems; career; career development; cohort; comorbidity; disorder risk; early onset; economic cost; ethnic minority; experience; filaggrin; gene environment interaction; genetic epidemiology; genetic risk factor; genetic variant; health equity; high risk; improved; loss of function; loss of function mutation; medical schools; microfluidic technology; next generation; novel; patient oriented; population based; professor; research and development; skills; skin barrier; skin disorder; social culture; sociocultural determinant; stratum corneum basic protein precursor

Research: of givers complex FLG persistent aside of represents sociocultural as mutations risk development Candidate: Rico became Clinical currently funded focus time Chiesa dermatologist will Dr. with relationship, Biostatistics, Genetics benefit Resource-based Center (SBDRC) at Penn. Career focus completion knowledge become Atopic dermatitis (AD) is a chronic, inflammatory disease characterized by episodes acute disease flares, resulting in significant morbidity and disease burden to patients, care and health systems. While the etiology of AD remains unknown, it is thought to involve a interplay between genetic, immune, and environmental mechanisms. Mutations in the gene result in skin barrier dysfunction and are associated with more severe and disease in AD. However, little is known about the genetics of AD in other populations from those o European ancestry. Latinx are an admixed population and have higher rates AD compared to non-Latinx whites. The study of admixed populations such as Latinx an opportunity to examine the individual contributions of ancestry, genetics, and the interactions with genetic variation to the pathogenesis of complex diseases such AD. The main purpose of this study is to examine the presence of FLG loss of function (LoF) and (2) to explore the relationship between ancestry, genetic variation, and disease in Latinx with AD. Data obtained from this study, would then serve to inform the of future research to help us improve our diagnostic and management strategies. Zelma C. Chiesa Fuxench, M.D., M.S.C.E. graduated from the University of Puerto School of Medicine (2008). She completed her residency training at said institution and board-certified in dermatology (2013). Dr. Chiesa completed her Master of Science i n Epidemiology (MSCE) in 2016 at the University of Pennsylvania (Penn) where she is an Assistant Professor of Dermatology. Dr. Chiesa's current goal i s to become a R01 independent investigator focused on the epidemiology and genetics of AD with a specific on Latinx. Environment: During the time of this award, Dr. Chiesa will devote 20% of her to caring for patients with AD and 80% to clinical research work. Dr. Margolis and Dr. currently have a long-standing mentor-mentee relationship. He is a well-renowned and dermatoepidemiologist, and an expert in the genetic epidemiology of AD and serve as Dr. Chiesa's primary mentor. Dr. Chiesa will also benefit from the mentorships of oel M. Gelfand M.D. M.S.C.E., a renowned expert in the field of dermatoepidemiology and whom Dr. Chiesa has collaborated extensively as part of an established mentor-mentee Dr. Nandita Mitra, Ph.D., (Professor of Biostatistics at the Department of Epidemiology and Informatics at PSOM) and Dr. Sarah Tishkoff (Professor of Penn Center for Global Genomics and Health Equity at Penn). Dr. Chiesa will also from the rich training environment at Penn including the Development: Dr. Chiesa will primarily her training on genetic epidemiology and use of statistical methods in genetics. With of the proposed research and career development plan, Dr. Chiesa will acquire the and skills necessary to achieve a strong foundation to an independent, patient-oriented clinical researcher. f J Skin Biology and Diseases

调研： 的 给予者 复杂 FLG 持久性 一边 的 代表 社会文化 作为 突变 风险 发展 候选人： Rico 成为 临床 目前 资助 重点 时间 Chiesa 皮肤科 将 博士 与 关系， 生物统计学、 遗传学 受益 宾夕法尼亚大学资源中心（SBDRC）。职业生涯 重点 完成 知识 成为 特应性皮炎（AD）是一种慢性炎症性疾病， 急性疾病发作，导致显著的发病率和患者的疾病负担，护理 和卫生系统。虽然AD的病因学仍然未知，但认为其涉及一种新的疾病， 遗传、免疫和环境机制之间的相互作用。突变 基因导致皮肤屏障功能障碍，并与更严重和 AD中的疾病然而，对其他人群中AD的遗传学知之甚少 欧洲血统的人。拉丁裔是一个混合人口， 与非拉丁裔白人相比。对拉丁人等混合种群的研究 一个机会来检查祖先，遗传学和 与遗传变异的相互作用对复杂疾病的发病机制， AD.本研究的主要目的是检查FLG功能丧失（LoF）的存在 探讨家系、遗传变异与疾病的关系 拉丁文AD从这项研究中获得的数据，然后将用于通知 未来的研究，以帮助我们改善我们的诊断和管理策略。 泽尔玛角Chiesa Fuxench，医学博士，硕士毕业于波多黎各大学 医学院（2008年）。她在上述机构完成了住院医师培训， 皮肤科委员会认证（2013年）。Chiesa博士在2011年完成了她的理学硕士学位。 2016年，她在宾夕法尼亚大学（Penn）的流行病学（MSCE） 皮肤科助理教授Chiesa博士目前的目标是成为R 01 一名独立的研究人员专注于AD的流行病学和遗传学， 在Latinx。环境：在这个奖项的时间里，Chiesa博士将把她20%的时间用于 80%用于临床研究工作。马戈利斯博士和博士。 目前有一个长期的导师-学员关系。他是一个著名的 和皮肤流行病学家，以及AD遗传流行病学专家， 担任基耶萨博士的主要导师Chiesa博士还将受益于以下人士的指导： 奥埃尔湾Gelfand医学博士M.S.C.E.，皮肤流行病学领域的著名专家， Chiesa博士作为既定导师的一部分进行了广泛的合作 博士Nandita Mitra博士，（生物统计学系教授， PSOM的流行病学和信息学）和Sarah Tishkoff博士（ Penn Center for Global Genomics and Health Equity（全球基因组学与健康公平中心）Chiesa博士还将 从宾夕法尼亚大学丰富的培训环境中， 开发：Chiesa博士将主要 她在遗传流行病学和遗传学中使用统计方法方面的培训。与 根据拟议的研究和职业发展计划，Chiesa博士将获得 和必要的技能，以实现一个坚实的基础， 一个独立的，以病人为导向的临床研究者。 F J 皮肤生物学与疾病