# Investigation of Filaggrin Gene Mutations among Latinx patients with Atopic Dermatitis

> **NIH NIH K23** · UNIVERSITY OF PENNSYLVANIA · 2024 · $172,709

## Abstract

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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 ...

## Key facts

- **NIH application ID:** 10909292
- **Project number:** 5K23AR081984-02
- **Recipient organization:** UNIVERSITY OF PENNSYLVANIA
- **Principal Investigator:** Zelma Charlotte Chiesa Fuxench
- **Activity code:** K23 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $172,709
- **Award type:** 5
- **Project period:** 2023-08-17 → 2028-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10909292

## Citation

> US National Institutes of Health, RePORTER application 10909292, Investigation of Filaggrin Gene Mutations among Latinx patients with Atopic Dermatitis (5K23AR081984-02). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10909292. Licensed CC0.

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