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
基本信息
- 批准号:10740811
- 负责人:
- 金额:$ 17.27万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 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:
- 关键词:Acute DiseaseAdultAfrican American populationAfrican ancestryAnxietyAsian ancestryAtopic DermatitisAwardBiologyBiometryBoard CertificationCandidate Disease GeneCharacteristicsChildChromosome 1ChronicClinicalClinical ResearchCollaborationsComplexDataDefectDermatitisDermatologistDermatologyDevelopmentDevelopment PlansDiagnosisDiagnosticDiseaseDisease susceptibilityDoctor of MedicineDoctor of PhilosophyEnvironmentEnvironmental Risk FactorEpidemiologyEthnic OriginEtiologyEuropeanEuropean ancestryFeeling suicidalFlareFoundationsFunctional disorderFundingFutureGene MutationGenesGeneticGenetic VariationGenomicsGenotypeGoalsHealth Care CostsHealth systemHigh-Throughput Nucleotide SequencingHumanImmuneImmunologic FactorsIndividualInflammatoryInformaticsInstitutionInvestigationKnowledgeLatinxLatinx populationMaster of ScienceMental DepressionMentorsMentorshipMexicanMorbidity - disease rateMutationNative AmericansOnset of illnessPathogenesisPathogenicityPatient CarePatientsPennsylvaniaPopulationPrevalencePreventionPrevention strategyProductionProteinsPruritusPuerto RicanQuality of lifeRaceResearchResearch PersonnelResidenciesResourcesRiskScientistSeriesSeveritiesSeverity of illnessSkinSleep DeprivationStatistical MethodsSusceptibility GeneSymptomsTherapeuticTimeTrainingUnited StatesUniversitiesVariantWorkburden of illnesscare systemscareercareer developmentcohortcomorbiditydisorder riskearly onseteconomic costethnic minorityexperiencefilaggringene environment interactiongenetic epidemiologygenetic risk factorgenetic varianthealth equityhigh riskimprovedloss of functionloss of function mutationmedical schoolsmicrofluidic technologynext generationnovelpatient orientedpopulation basedprofessorresearch and developmentskillsskin barrierskin disordersocial culturesociocultural determinantstratum corneum basic protein precursor
项目摘要
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
项目成果
期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
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Zelma Charlotte Chiesa Fuxench其他文献
Zelma Charlotte Chiesa Fuxench的其他文献
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