New Therapeutic Pathway Emerges for Jansen’s Disease

We’re excited to feature a pioneering study that brings hope for treatment in the world of Jansen’s metaphyseal chondrodysplasia (JMC). In this groundbreaking work, Dr. Tom Gardella and colleagues, demonstrate that a carefully designed inverse agonist ligand targeting the PTH receptor can significantly improve skeletal abnormalities in a mouse model of JMC.

Published in Journal of Bone and Mineral Research, this study offers the first proof-of-concept evidence that directly suppressing the mutant receptor’s activity can reverse key aspects of the disease phenotype. Treated mice showed measurable improvements in bone structure and mineral ion regulation—offering a critical foundation for the development of targeted therapies for individuals affected by this rare and challenging condition.

This research reflects the tremendous collaboration between basic science, translational approaches, and clinical ambition, bringing the promise of a future with treatments, not just hope.

Find the full publication here: An Inverse Agonist Ligand of the PTH Receptor Partially Rescues Skeletal Defects in a Mouse Model of Jansen's Metaphyseal Chondrodysplasia