Laboratory of Human Genetics and Molecular Pathology

To offer solutions to patients with rare genetic diseases is a clear necessity of today's society. The TFM we proposed is directed to increase the current knowledge on the molecular pathomechanisms underlying  two genetic diseases that affect skeletal development: osteogenesis imperfecta and Ellis-van Creveld syndrome. The TFM student will be involved in the identification of new genes responsible for these diseases by using new technologies such as "whole exome sequencing" and in the analysis of the pathophysiological mechanisms associated with the genetic causes of OI/EvC. It is expected that the knowledge acquired during the development of this TFM can help to inspire future therapeutic strategies for these diseases.