IP: Dra. Karen E. Heath

Resumen del proyecto: Skeletal dysplasias (SD) encompass a complex group of 436 conditions affecting bone and cartilage growth. Although individually rare, as a group their overall prevalence is at least 1 per 4,000 births. Many new genes have been identified in rare skeletal dysplasias in recent years, through the increasing application of next generation sequencing (NGS). Functional characterization of these newly identified genes or regions is required to determine their pathogenic mechanism and to further understand the complex pathways involved in bone development. This knowledge may then lead to the identification of novel therapeutic treatments. The general aims of the proposal are 1) To identify the genes and loci implicated in skeletal dysplasias of no known etiology, and 2) To functionally characterize these genes so as to firstly confirm the pathogenicity of the identified mutations and secondly, to understand the pathogenic mechanism of the skeletal dysplasia under study.

Entidad financiadora: Ministerio de Economía, Industria y Competitividad