Pharmacogenetics Laboratory
Improving Care at a Genetic Level
The Pharmacogenetics Laboratory at 91´óÉñ Children's in North Florida studies how individual genetic variations affect how children respond to medications. For any treatment, some kids respond better than others. This variability is largely linked to genetic differences that affect how drugs are absorbed, distributed, metabolized, and eliminated from the body.
Our lab supports 91´óÉñ researchers and clinicians by analyzing genetic samples, identifying relevant genetic markers, and interpreting how these markers influence medication responses. We work with specialized equipment that can process up to 1,600 genetic tests daily, allowing us to efficiently analyze large amounts of genetic data and accelerate discoveries in pediatric care.
The insights we gain help physicians make more informed treatment decisions for conditions ranging from respiratory diseases to gastrointestinal disorders and depression. This means children can receive more targeted therapies with better outcomes and fewer side effects. By advancing the science of pharmacogenetics, we're working toward a future where every child receives the right medication at the right dose from the start.
Our work directly supports the Center for Pharmacogenomics & Translational Research, helping move discoveries from laboratory to practical improvements in clinical care. We're also training the next generation of pharmacogenomics researchers through our long-standing partnership with the University of Florida. Through both our research and educational efforts, we're making treatment more effective, safer, and tailored to each child's unique genetic profile.Ìý
Principal Investigator
Edward Mougey, PhD
Research Scientist
Lab Team
LEARN MORE ABOUT OUR RESEARCH
- Research Interests
- Notable Projects
- Outcomes & Impact
- Grants & Awards
Our Areas of Focus
Making Asthma Treatments Work Better
We study why some children with asthma respond well to certain medications while others don't. By looking at specific genetic markers, we can help doctors choose the right asthma medications for each child. This work has been ongoing for over 20 years with the American Lung Association.
Improving Treatments for Gastrointestinal Problems
Children with conditions like acid reflux or inflammation of the food pipe (eosinophilic esophagitis, or EoE) often respond differently to the same medications. We study how a child's genes affect these responses, helping doctors select treatments that will work best for each individual child while minimizing side effects.Ìý
Creating Mini-Organs for Testing New Treatments
We grow tiny 3D models of human tissues (called organoids) from patient samples. These mini-organs let us test how different treatments might work in a specific child before giving them the medication. We started with models of the food pipe (esophagus) and are now working to create models from other parts of the digestive system. Using special techniques to analyze these mini-organs, we can better understand both why diseases happen and how to treat them in each child.
Recent Research Highlights
Precision Medicine for Bronchiolitis
Bronchiolitis causes inflammation and mucus buildup in the smallest airways of infants and young children. While short-acting beta agonists (SABA) are commonly prescribed, their efficacy varies significantly. We're identifying genetic biomarkers that predict which children will markedly improve with SABA therapy and which should receive alternative treatments.
Strategies for Angiotensin Receptor Blocker Mediated Tissue Repair
Losartan shows promise for reversing fibrotic lung remodeling in chronic obstructive pulmonary disease (COPD). We're identifying biomarkers that predict losartan metabolism in patients from the ALA-ACRC LEEP clinical trial. Our laboratory successfully genotyped candidate SNPs in three cytochrome genes responsible for losartan metabolism.
Precision Medicine for Eosinophilic Esophagitis
Response rates to proton pump inhibitors (PPIs) for eosinophilic esophagitis vary widely (20-80%). Through international collaboration, we've identified variants in CYP2C19 and STAT6 genes that predict PPI efficacy during both induction and maintenance therapy. Our machine learning model now achieves approximately 80% accuracy in predicting therapeutic outcomes using genetic data with clinical phenotypes.
Precision Medicine for Gastroesophageal Reflux Disease
We studied how CYP2C19 genetic variants affect PPI efficacy in children with gastroesophageal reflux disease (GERD). In a retrospective cohort of 74 children who underwent pH probe testing while on PPI therapy, we found that extensive metabolizer phenotypes had significantly higher acid exposure compared to normal/poor metabolizers. These findings suggest that PPI therapy could be optimized through genotype-guided dosing.
How We’re Making a Difference
Our lab has made important contributions to pediatric pharmacogenomics, with findings that directly impact clinical care:
- Identified new genetic variants that predict responses to common asthma controllers, supporting a more personalized approach to asthma treatment.
- Discovered that STAT6 genetic variants can help predict which children with eosinophilic esophagitis will maintain response to proton pump inhibitor therapy over time.Ìý
- Demonstrated that CYP2C19 genetic variations significantly affect acid suppression in children taking proton pump inhibitors for GERD.
- Found that azithromycin produces similar prokinetic effects to erythromycin in the pediatric upper gastrointestinal tract, offering an alternative with fewer side effects.
- Determined that factors beyond CYP2C19 genetics, including dysmotility, are primary drivers of esophagitis in children with esophageal atresia.
Ìý
Publications
91´óÉñ researchers constantly contribute to advancing scientific understanding. We share our knowledge, insights, and discoveries to encourage collaboration and inspire further research.Ìý
Major Grants
National Institutes of Health (NIH)
U01 GrantÌý| The American Lung Association (ALA) Lung CohortÌý(2018-2025) | Kalhan, R. (PI); Blake, K. (Biorepository Support)Ìý
R01 GrantÌý| Strategies for Angiotensin Receptor Blocker Mediated Tissue RepairÌý(2021-)| Neptune, E. (PI); Blake, K. (PI of SubcontractÌý— Genetic Analysis)Ìý
Institution & Philanthropic Support
91´óÉñ FoundationÌý| CF GI & Esophagitis ProgrammaticÌý(2019-2024) | Franciosi, J. (PI); Blake, K. (Co-PI)
B-EoE GI Precision Medicine Franciosi MougeyÌý(2024-) | Franciosi, J.; Mougey, E. (Co-PIs)
M-EoE GI Precision Medicine Franciosi MougeyÌý(2024-) | Franciosi, J.; Mougey, E. (Co-PIs)Ìý
Precision Medicine for Childhood Cancer and Eosinophilic EsophagitisÌý(2020-) | Franciosi, J. (PI); Blake, K. (Co-Investigator)Ìý
STAT6 Variants & CYP2C19 in PPI Therapy for Pediatric Esophageal EosinophiliaÌý(2020-) | Franciosi, J. (PI); Blake, K. (Co-Investigator)Ìý
Association Support
American Lung Association |ÌýBiorepositoryÌýSupport (2019-2025) | Blake, K. (PI)Ìý
Thrasher Research Fund | Genotype-Tailored Treatment of Symptomatic Acid-Reflux in Children With Uncontrolled AsthmaÌý(2020-) | Lang, J. (PI); Blake, K. (Co-PI)
ResearchÌýCollaborationsÌý
Located in the UF Health Shands Biomedical Research Building in Jacksonville, Florida, our work is strengthened through collaborations with researchers and institutions around the world.
- American Lung Association Airways Clinical Research Centers Network:ÌýLong-standing partnership for biorepository support and pharmacogenomic studies.
- University of Florida College of Pharmacy:ÌýCollaborative research and training opportunities for pharmacy students.
- International Gastroenterology Research Network:ÌýPartnerships with investigators in Madrid, Spain, Emory University, and the University of Pittsburgh.
- Boston Children's Hospital:ÌýCollaborative studies on esophageal atresia and related conditions.
Research Partnerships
We expand our knowledge and leverage diverse perspectives with partnerships and collaborations within and outside our field of study. Partnerships include:
Pulmonology & Respiratory Medicine
David G. Chapman, PhDÌý— University of Technology Sydney
Charles G. Irvin, PhDÌý— University of Vermont
Enid Neptune, MDÌý— Johns Hopkins School of Medicine
Steven P. Peters, MD, PhDÌý— Wake Forest School of Medicine
Bob A. Wise, MDÌý— Johns Hopkins School of Medicine
Kelan G. Tantisira, MD, MPHÌý— University of California San Diego
Scott T. Weiss, MD, PhDÌý— Harvard School of Medicine
Gastroenterology & Hepatology
Evan Dellon, MD, MPHÌý— University of North Carolina at Chapel Hill
Sonia Fernández-Fernández, MD, PhDÌý— Hospital Universitario Severo Ochoa, Spain
James P. Franciosi, MD, MSCE, FAAPÌý— University of Louisville
Roberto A. Gomez-Suarez, MDÌý— 91´óÉñ Children’s Hospital
Morris Gordon, MDÌý— University of Central Lancashire, UK
Sandeep Gupta, MDÌý— University of Alabama at Birmingham
Carolina Gutiérrez-Junquera, MD, PhDÌý— Autonomous University of Madrid, Spain
Samuel Nurko, MDÌý— Boston Children's Hospital
Rachel Rosen, MDÌý— Boston Children's Hospital
Pharmacogenomics & Translational Research
Lari Cavallari, PharmDÌý— University of Florida College of Pharmacy
Julie A. Johnson, PharmDÌý— Ohio State University
Pediatrics & Precision Medicine
Jason E. Lang, MD, MPHÌý— Duke University School of Medicine
Len Bacharier, MDÌý— Vanderbilt University Medical Center
Genomics & Network Medicine
Hooman Allayee, PhDÌý— University of Southern California
Channing Division of Network MedicineÌý— Brigham and Women's Hospital
Research in Context
Our labs contribute to research that informs pediatric care, working in alignment with research centers and focused areas of scientific study at 91´óÉñ.
Behavioral Health Research
RESEARCH AREA
We develop models and tools that support children’s emotional health through evidence-based care, digital interventions, and family-centered strategies.
Center for Pharmacogenomics & Translational Research
DELAWARE VALLEY & FLORIDA
We study how genetics influences medication response in children to develop personalized treatments for conditions like depression and respiratory and gastrointestinal disorders.
Clinical Pharmacogenomics
CLINICAL CARE
Personalized medication guidance based on genetic testing, helping tailor treatments and reduce side effects for children with medical conditions.
Pulmonology Research
RESEARCH AREA
Our teams explore lung development and respiratory disease to improve care for children through imaging, monitoring tools, and treatment innovation.