Cecilia Giunta

I am a molecular geneticist and an established scientist working in the field of connective tissue disorders (CTD) since 1995. I have a longstanding experience in molecular and biochemical research of the entire spectrum of CTD with a main focus in the discovery of the genetic basis of CTD and subsequently the understanding of their disease pathomechanims. My disease-oriented research in the last 25 years has always implemented the concerted action of clinical, morphological, biochemical, cell biological and molecular studies to further unravel the aetiology and pathomorphogenesis of several CTD and in particular of Osteogenesis imperfecta (OI) and Ehlers-Danlos Syndrome (EDS). This approach has been rather successful culminating in the elucidation of the molecular basis of several new forms of CTD and the characterization of additional new forms of CTD in recent years. In my scientific carrier, I have carried out pioneer research in different rare types of OI and EDS such as kEDS, brittle cornea syndrome, aEDS and spEDS. The list of my scientific contributions and the number of supported research grants received in the last 10 years (listed below), especially in consideration of my part-time employment (2002 to present), are testimonial of a successful research activity. During my work at the University Children's Hospital Zurich, I have contributed to the development of comprehensive diagnostic procedures combining specific biochemical, cell-based and molecular genetic tools for the diagnosis of several types of EDS. Among the strengths that contribute to my successful research activities are the ability to conceptualize scientific project, the friendly and competent way of supervising and coaching young researchers. My concerted research in the field of OI and EDS in the last 25 years has made a contribution to the understanding of the pathomechanisms of these disorders and by a good and careful clinical description of patients and in combination with the establishment of biochemical, cellular and genetic analyses has contributed to improve diagnosis in a time and cost effective way. Last but not least, it has also has contributed to increase the awareness for connective tissue disorders that have long been neglected. My major motivitation to work in the field of CTD is the belief that the knowledge obtained with this research positively affects the management of patients and improves their quality of life.