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

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