EURO-CDG

Congenital Disorders of Glycosylation (CDG) refers to a rapidly expanding group of rare genetic, metabolic disorders due to defects in a complex chemical process known as glycosylation. Our European network brings together a multidisciplinary group of clinical and basic researchers, involved in the systematic search for genetic causes of CDG. Besides this diagnostic activity, we also are promoting fundamental research into the pathophysiology of the disease to explain the link between specific genetic mutations and the clinical picture. The EURO-CDG project aimed to cover three complementary research axes: (i) improve the diagnostic approach for CDG, (ii) develop animal models in order to better understand the mechanisms responsible for the evolution of the disease and (iii) improve the life of CDG patients. Unfortunately, the number of options for treatment is small and a better understanding of the disease still is needed to open avenues for the design of therapeutic approaches. 

The EURO-CDG network focused on the identification of novel types of CDG, the establishment of expert diagnostic services, and the maintenance of a patient registry and cell depository. Clinical and basic research were coordinated and national referral centres were selected to better serve the patients and their families. The latest sequencing technologies and the bioinformatical analysis of the genomic data were implemented for diagnosis and proved to be successful, since we were able to identify and characterize 4 novel genetic defects responsible for CDG within the course of the project. The different partners were successful in the establishment of both fish and mouse models that not only are useful to help us in better understanding the mechanisms of the disease, but will also be used in the future for the assessment of therapeutic options. Similarly, we have been working on the development of different tools to better characterize the glycosylation defects occurring in CDG patients, but that will also be useful to evaluate (in both cell and animal models) the efficacy of the therapeutic approaches we are at the moment developing. Finally, we performed an extensive clinical study on a broad cohort affected for the most common type of the disease. This study allowed us to reconsider the clinical and biological presentation of the patients according to their age.