Genetics & Precision Medicine Research

Powering Personalized Pediatric Care

Many childhood conditions start at the molecular level. Small changes in DNA, gene expression, or cellular signaling can influence how organs develop, how the immune system responds, and how a child metabolizes medication.

Genetics and precision medicine research at Nemours Children’s focus on decoding those mechanisms. We uncover the biological drivers of rare disorders, aggressive cancers, immune dysfunction, congenital heart disease, and critical illness. Our teams develop more precise diagnostic tools and targeted therapies for children. This approach means care is guided by the underlying biology unique to each child.

Key Areas of Research 

Gene Therapy & Genetic Disease Mechanisms | Developing therapies designed to repair or replace disease-causing genes in rare bone disorders, neuromuscular diseases, congenital heart disease, and other complex conditions.

Cancer Genomics & Immune Engineering | Using tumor sequencing and engineered immune cells to design targeted treatments for aggressive leukemias and solid tumors.

Precision Medication & Pharmacogenomics | Applying validated genetic testing to guide medication selection and dosing so children receive safer, more effective treatment across respiratory, gastrointestinal, behavioral, and other specialties.

Molecular Diagnostics & Early Detection | Advancing genomic testing and blood-based biomarkers to diagnose inherited conditions, transplant rejection, autoimmune disease, and neurodevelopmental disorders earlier.

Cellular Energy & Critical Illness Biology | Studying mitochondrial dysfunction and cellular signaling pathways to better predict organ failure and personalize intensive care.

Precision Infrastructure & Integration

Our precision infrastructure brings together pediatric biobanking, advanced sequencing, CLIA-certified molecular diagnostics, specialized cell and tissue cores, and enterprise data analytics into a shared research platform. This structure supports large-scale genomic analysis and focused research into how disease develops at the cellular level.

Integrated within clinical programs, these capabilities move discoveries directly into clinical trials and patient care. The result is stronger diagnostics, more targeted therapies, and faster translation for children with complex conditions. 

Genetics & Precision Medicine Clinical Trials

Our investigators lead and participate in gene therapy, cellular immunotherapy, pharmacogenomic-guided treatment, and biomarker validation trials. We collaborate with national research networks to expand access to innovative therapies for children with rare and complex conditions.

Clinical research gives families access to emerging treatments while helping shape the future of pediatric medicine.

Mom holding her baby

Where Genetics & Precision Medicine Research Happens

Genetics and precision medicine research at Nemours is supported by shared laboratory and data resources in Delaware Valley and Florida. These teams collaborate across departments to support both foundational discovery and applied clinical research.

This structure provides specialty programs access genomic testing, molecular analysis, and data expertise. It creates a consistent platform for precision research across our system.

Related Research

Genetics & Precision Medicine Clinical Care