Luca Santarelli, MD of Therachon discusses reaching out to achondroplasia advocacy groups.
Achondroplasia is an autosomal dominant disorder characterized by dwarfism and disproportionate shortness of limbs, accompanied by life-altering complications. Achondroplasia is caused by a gene alteration (mutation) in the FGFR3 gene. Approximately 97% of achondroplasia cases are caused by a single mutation in the fibroblast growth factor receptor 3 (FGFR3), a G380R substitution which results in a ligand dependent gain of function. This leads FGFR3 to send persistent rather than transient growth inhibition signals, preventing its down-regulation. The ensuing disrupted endochondral ossification, results in disproportionate shortness of limbs, and is associated with debilitating orthopedic, neurological and ear nose and throat complications.
