Skeletal Dysplasia Lab
Transforming Care for Kids With Rare Skeletal Disorders
The Skeletal Dysplasia Lab at Nemours Children’s in Delaware Valley is working to change the future for children with rare genetic disorders affecting bone and cartilage development. We focus on mucopolysaccharidosis (MPS), particularly Morquio A syndrome. For more than 30 years, our team has turned breakthrough discoveries into real-life treatments that make a difference in children’s lives.
Our contributions to understanding and treating Morquio A syndrome is groundbreaking. We have identified the genes responsible for the condition and developed new diagnostic tools to help detect it early in life. We maintain one of the world's largest Morquio patient registries, helping us better understand how this condition affects children throughout their lives.
Recently, we received a prestigious grant to conduct the first-of-its-kind gene therapy clinical trial for Morquio A. This revolutionary approach could potentially transform treatment options, offering hope for more effective, longer-lasting solutions.
Looking ahead, we're developing multiple promising therapies and more care options, including new drug treatments, gene therapy, and cutting-edge diagnostic tools. Our work spans from laboratory research to direct patient care, ensuring that our scientific discoveries translate into real-world benefits for children and families affected by skeletal dysplasia.
Principal Investigator
Shunji Tomatsu, MD, PhD
Principal Research Scientist
Lab Team
LEARN MORE ABOUT OUR RESEARCH
- Research Interests
- Notable Projects
- Grants & Awards
- Recognition
Our Areas of Focus
Tracking Disease Progress to Transform Treatment
Our registry of over 400 patients with Morquio A helps us understand how the disease develops over time. We’re documenting detailed natural history data to reveal patterns that guide doctors in providing better care and helps researchers develop more effective treatments. We've published more than 50 papers and developed new treatments targeting bone health.
Revolutionizing Patient Monitoring Through Child-Friendly Tests
We’re developing gentle ways to monitor children's health. Our non-invasive, innovative approaches track breathing, bone strength, flexibility, and movement in ways that work better for kids with limited mobility. This helps us understand how well treatments are working while keeping children comfortable.
Advancing Diagnostic Precision Through Biomarker Research
We pioneer advanced methods to measure key substances (glycosaminoglycans or GAGs) that build up in Morquio A. Using innovative technology, we can precisely measure these biomarkers to diagnose the condition accurately and track how well treatments are working. This work is essential for both early detection and monitoring treatment effectiveness.
Detecting Disease Earlier to Prevent Complications
Early diagnosis can make a difference in treatment outcomes. We've developed a new screening method that can identify Morquio A and other similar conditions in newborns using just a tiny drop of blood. In our studies, we successfully identified affected infants, allowing for earlier treatment and better outcomes.
Pioneering Breakthrough Treatment Strategies
We're exploring multiple promising treatments, including stem cell transplantation, gene therapy using viral vectors, and innovative enzyme replacement approaches. We focus on developing treatments that can effectively reach and strengthen bone tissue, which is especially important for children with Morquio A.
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 Nemours.
Cardiac Research
RESEARCH AREA
Our researchers study congenital and acquired heart conditions to advance pediatric cardiology through innovation in diagnosis, treatment, and outcomes.
Orthopedics Research
RESEARCH AREA
Our teams study bone, joint, and muscle development to improve care for children with orthopedic conditions through innovation and collaboration.