About
Mission
If a mother's love could heal, we would not have any sick children in the world.
Jansen's Metaphyseal Chondrodysplasia (JMC) is an ultra-rare skeletal disorder caused by activating mutations in the PTH1R gene, leading to abnormal bone growth and severe mineral imbalance. Only a few dozen individuals worldwide are known to be affected, and there are currently no approved treatments.
Groundbreaking research led by Dr. Harald Jueppner and Dr. Thomas J. Gardella at Harvard Medical School and Massachusetts General Hospital, supported by the NIH and NCATS, has demonstrated in preclinical mouse models that a targeted inverse agonist therapy can reverse key features of the disease.
This critical proof-of-concept represents a major milestone and has paved the way for the first-in-human clinical trial, which is now in preparation.
Our mission is to accelerate research, support clinical trials, and unite families, clinicians, and researchers -- while raising awareness, sharing knowledge, and driving progress toward a cure.
Uploaded by The Jansen's Foundation on May 27, 2017.