Marco Angelozzi, PhD - "Targeting an Fgfr3 enhancer: a potential therapeutic tool for achondroplasia"

Marco Angelozzi, PhD
Research Staff Scientist I
Lefebvre lab
Department of Surgery
Division of Orthopaedics
Children's Hospital of Philadelphia, USA


Short CV

Abstract
Growth plate cartilages are highly specialized structures responsible of skeletal growth. Perturbations of the molecular signaling pathways in these tissues lead to human disorders known as skeletal dysplasias. Achondroplasia is the most common form of skeletal dysplasia and it is caused by missense variants over-activating the fibroblast growth factor receptor 3 (FGFR3). Current surgical and pharmaceutical treatments only partially improve some features of the disease. The identification of a highly-conserved cartilage-specific FGFR3 enhancer paves new paths to develop enhancer-targeting therapies for people with achondroplasia.