Pediatric Pharmacogenomics & Translational Research Center
- About Us
- Our Research
- Research Impact
Advancing Personalized Medicine for Children
The Center for Pharmacogenetics & Translational Research at 91´óÉñ Children’s in North Florida is transforming the future of personalized medicine for kids. We work to ensure that every child has the right medication at the right dose at the right time. By studying how genes can affect response to medicine, we’re redefining treatments for conditions like respiratory diseases, depression, and gastrointestinal disorders.
Since 1989, our Center has grown into a nationally recognized leader in pediatric pharmacogenomics, beginning our work in asthma medications. As a founding member of the American Lung Association Airways Clinical Research Centers network, we helped to establish one of the largest biorepositories for pediatric respiratory research in the country, located in Delaware Valley. We collaborate with researchers from leading academic institutions such as the University of Florida, Johns Hopkins University School of Medicine, Harvard’s Brigham and Women’s Hospital, and others to drive discoveries in pediatric pharmacogenomics.
The center is dedicated to advancing pediatric health through cutting-edge pharmacogenomics and translational science. Our mission is to deliver precision medicine solutions by integrating research, clinical care, and education, training the next generation of scientists while enhancing patient outcomes through personalized therapeutic strategies.
Beyond research, we provideÌýclinical pharmacogenomics servicesÌýfor children. We bring genetic testing into everyday medical care, helping doctors to make personalized medication decisions.
Pioneers in Pharmacogenomics Research
Our work, spanning respiratory diseases, depression, gastrointestinal disorders,ÌýÌýand drug metabolism, places us at the forefront in pharmacogenomics research and innovative solutions.
$10 M +
Research funding for clinical studies
110+
Clinical trialsÌý
500,000
Biospecimens collected for the lung health cohort study
°Â±ð'°ù±ðÌýleaders in the American Lung Association Airways Clinical Research Centers networkÌýwhich has conductedÌý25 large clinical trials funded by NIH, the American Lung Association, and pharmaceutical industry, many studying genes that influence the response to treatments tested.
WithÌýfunding from the National Human Genome Research Institute, the National Heart, Lung, and Blood Institute, and others, we conduct high-impact research that makes a difference in the lives of children.
We advanceÌýnew understandings of pediatric precision medicineÌýinto clinical practice.
We help to trainÌýthe next generation of researchers and clinicians.
Our Leadership
Kathryn Blake, PharmD, BCPS, FCCP, CIP
Director, Center for Pharmacogenomics and Translational Research
Professor of Pharmacy, Mayo Clinic College of Medicine and Science
Principal Research Scientist, Division of Pulmonology 91´óÉñ Children's HealthÌý
Research Team
Join Us
Tailoring Medicine to Each Child’s Genetic Profile
Our team sees a future where every child receives personalized treatment based on their unique genetic makeup. With robust research happening in our affiliatedÌýPharmacogenetics Laboratory, we bring discoveries into clinical care to ensure safer, more effective medications for children.
Focus Areas
We concentrate research efforts within these key focus areas:
Getting Medications Right: Pharmacogenomics & Precision Medicine
We study how a child’s genetic makeup affects their response to medications for a range of conditions, from depression to respiratory diseases to reflux disease. By identifying specific genetic markers, we can help doctors choose the safest, most effective treatments. This precision approach means fewer side effects, better outcomes, and improved quality of life.Ìý
Making Treatments Work Better: Respiratory Disease ResearchÌý
We’re developing innovative approaches to help kids with respiratory diseases breathe easier. Our studies look at why asthma and bronchiolitis medications work differently in different populations, and how pharmacogenomics can help us understand these variations. We’re working to adjust treatments for maximum benefit across all racial and ethnic groups. This helps us develop better treatments that that work for all children, regardless of background.Ìý
Banking on Tomorrow’s Cures: Biorepository & Translational ResearchÌý
In collaboration with the American Lung Association, we manage the nationally recognized Lung Health Cohort Biorepository, which stores nearly 500,000 biological specimens. Researchers can access these specimens to provide invaluable insights into how patients respond to medications. This extensive collection allows usÌýto identify genomic patterns to guide new treatment approaches that can quickly move from lab to bedside. We’re accelerating discoveries that will transform pediatric medicine for generations to come.
Putting Research into Practice: Clinical Pharmacogenomics Service
We translate our research findings directly into clinical care through pharmacogenomic testing services at 91´óÉñ. Our specialized pharmacists interpret genetic test results and provide medication recommendations that help doctors make personalized treatment decisions. This practical application of our research is improving care for children today while advancing the field of precision medicine.
Research Themes
These cross-cutting themes represent our core values and methodologies, shaping how we approach every research question:Ìý
- Genetics-Driven Precision Medicine:ÌýIdentifying how genetic variations impact treatment responses in asthma, respiratory disorders, depression, acid reflux, eosinophilic esophagitis, and more.
- Health Representation:ÌýEnsuring research includes diverse populations and addresses disparities in treatment responses and outcomes across racial and ethnic groups.
- Translational Research:ÌýQuickly moving discoveries from the lab to clinical applications that directly benefit patients.Ìý
- Educational Outreach:ÌýTraining students, clinicians, and researchers in pharmacogenomics principles and applications to expand the field’s impact.
Clinical Trials & Research Studies at 91´óÉñ
Pediatric clinical trials and research studies are important for advancing medical knowledge and improving care for kids around the world. Our researchers lead clinical research to study new drugs, treatments, devices, and techniques. We also contribute to national registries and collaboratives to further research in this area. Find a clinical trial or study now.
Related Research & Care at 91´óÉñ
Centers at 91´óÉñ often align with research areas, affiliated labs, and clinical programs to support discovery and care systemwide.
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.
Clinical Pharmacogenomics
CLINICAL AREA
Personalized medication guidance based on genetic testing, helping tailor treatments and reduce side effects for children with medical conditions.
Gastroenterology Research
We study pediatric digestive diseases to advance diagnosis, treatment, and long-term care through innovative diagnostics and clinical research.
Genetics & Precision Medicine Research
RESEARCH AREA
Our researchers use genomic testing, biomarker discovery, gene therapy, and data science to advance more precise diagnosis and treatment for children with rare and complex conditions.
Pharmacogenetics Laboratory
NORTH FLORIDA
We identify genetic markers that help physicians select medications & doses for genetic profiles to improve treatment effectiveness & reducing side effects.
Pulmonology Research
RESEARCH AREA
Our teams explore lung development and respiratory disease to improve care for children through imaging, monitoring tools, and treatment innovation.
How We Make a Difference
Our center has made significant strides in improving care for children and families. Our leadership, innovation, and impact are widely recognized. Since becoming a founding network site of the in 1999, we’ve helped shape national standards for pediatric respiratory care. We've pioneered pharmacogenomic analysis and biospecimen storage practices that were groundbreaking for their time.
Our participation in the , funded by the National Human Genome Research Institute, has also been critical to advancing pharmacogenomics at 91´óÉñ. Through IGNITE, we led the largest clinical trial to date evaluating how genetic testing can guide antidepressant treatment in children.
Notable Achievements & Affiliations
Biorepository Leadership
The ALA-ACRC Biorepository at 91´óÉñ was formalized in 2015 with American Lung Association funding. We are now the sole biorepository site for specimens collected from ALA-ACRC studies, managing nearly 500,000 biospecimens for the ALA-ACRC Lung Health Cohort Study and other network studies.
Innovative Clinical Trials
Our pharmacogenomic trial of medications for depression in children and adolescents was conducted entirely remotely to make study participation more accessible across the Delaware Valley and Florida. This groundbreaking approach, funded by NIH, enabled convenient assessment schedules for participants.
University of Florida Partnership
Our pharmacogenomic research led to a significant affiliation with the University of Florida-Gainesville beginning in 2016.ÌýThis collaboration resulted in 91´óÉñ being invited to participate as the pediatric site for the National Human Genome Research Institute's IGNITE (Implementing Genomics in Practice) research grant, where we've contributed the largest population of pediatric participants with symptoms of depression for evaluating the effect of treatment selection guided by pharmacogenomic testing.
Clinical Translation
Through our UF partnership, we established the 91´óÉñ Clinical Pharmacogenomics Service with specially trained pharmacists who support both clinical and research initiatives, provide education to providers and patients, and integrate pharmacogenomic results and recommendations in the electronic health record.
Breakthroughs in the Pharmacogenomics of Respiratory Disorders
Our team has identified several novel SNPs (single nucleotide polymorphisms) that associate with response to common asthma controllers. This discovery supports further pharmacogenomic study and demonstrates the potential for using genetic variants to personalize asthma treatment, improving outcomes for children with this condition.Ìý
Educational Impact
The 91´óÉñ-UF relationship has been highly successful in training pharmacy students in laboratory-based pharmacogenomic research. Within the Pharmacogenomics Laboratory, we have trained one or two University of Florida pharmacy students every summer for over 15 years. We've also provided research training as a semester elective course through UF, helping to develop tomorrow’s leaders in the field.
Clinical Pharmacogenomics Service
Our partnership with the University of Florida established the 91´óÉñ Clinical Pharmacogenomics Service with specially trained pharmacists (Ben Duong, PharmD in Delaware; Kelsey Cook, PharmD and Nathan Seligson, PharmD in Florida). This service supports both clinical and research initiatives, providing education to providers and patients while integrating pharmacogenomic results and recommendations directly into electronic health records through clinical decision support tools. This practical application of our research is improving care for children today while advancing the field of precision medicine.
Publications
91´óÉñ researchers constantly contribute to advancing scientific understanding. We share our knowledge, insights and discoveries to encourage collaboration and inspire further research.
Major Grants & Funding
Our work is supported by competitive grants from national organizations including:
National Institutes of Health (NIH)
R01 Grants
The American Lung Association Lung Health Cohort (2018-2025) | Blake, K. (Site PI)Ìý
A Depression and Opioid Pragmatic Trial in Pharmacogenetics (2018-2025) | Johnson, J. (PI) | Blake, K. (Pediatric Site PI)
American Lung Association
ALA-ACRC Infrastructure GrantÌý| Airways Clinical Research Centers Network Support (1999-) | Blake, K. (PI)Ìý
Biorepository Support GrantÌý| American Lung Association Biorepository (1999-) | Blake, K. (Biorepository PI)Ìý
Institutional & Philanthropic Support
91´óÉñ Foundation |ÌýCF GI & Esophagitis ProgrammaticÌý(2019-2024) | Franciosi, J. (PI)Ìý
B-EoE GI Precision Medicine Franciosi MougeyÌý(2024-) | Franciosi, J.; Mougey, E. (Co-PIs)Ìý
M-EoE GI Precision Medicine Franciosi MougeyÌý(2024-) | Franciosi, J.; Mougey, E. (Co-PIs)Ìý
Awards & Recognition
Our center's director, Dr. Kathryn Blake, has been recognized with numerous prestigious awards for her contributions to pediatric pharmacology and translational research:
- 2023 Sumner J. Yaffe Lifetime Achievement Award in Pediatric Pharmacology and Therapeutics:ÌýPresented by The Pediatric Pharmacy Association in recognition of significant and sustained contributions toward improving children's health through the expansion of the field of pediatric pharmacology and therapeutics.
- 2017 Medical Honoree of the American Lung Association of Northeast Florida:ÌýRecognizing excellence in work dedicated to improving lung health and preventing lung disease.
- 2016 Unsung Hero Award:ÌýPresented by the William E. Proudford Sickle Cell Fund, Inc.
- 2015 Excellence in Scholarship:ÌýPhysician Excellence Awards, 91´óÉñ Foundation.
ResearchÌýPartnershipsÌý
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