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
研究:
项目成果
期刊论文数量(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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