Defining the molecular pathogenesis of the ribosomopathy cartilage hair hypoplasia

Cartilage Hair Hypolasia (CHH) is a rare genetic disease characterized by skeletal abnormalities, hair and skin defects, immunodeficiency and predisposition to cancer. CHH was first described in the 60', but only in the recent past, investigators ascribed the origin of the pathology to a mutation in RMRP gene. Our purpose is to investigate the molecular basis of CHH in a newly generated human cellular model, which mimics the genetic alteration related to the disease in cartilage. Such a molecular approach will shed light on the molecular bases of the disease, a step which preludes to the future development of new therapeutic strategies