“Early diagnosis of some lysosomal diseases: analysis of the clinical utility and diagnostic validity of genomic techniques for their molecular diagnosis. Evaluations on the implications of the inclusion of lysosomal diseases in the context of a national newborn screening program”

The project, financed by Sanofi S.r.l. aims to explore the use of the most advanced diagnostic methods in genomics for the early diagnosis of some lysosomal diseases.
Lysosomal diseases are a group of multisystem genetic-metabolic diseases caused by various functional alterations of lysosomes. Individually rare, overall they have a prevalence in the general population of between 1: 4000 and 1: 9000 live births.
The remarkable clinical heterogeneity of lysosomal diseases is responsible for a considerable diagnostic delay, which contributes to an aggravation of chronic neurological and systemic disabilities of the affected people.This has important consequences on the quality of life of patients and their families and inevitable repercussions on health care costs for welfare and social costs.
Lysosomal diseases are due to mutations in more than 50 different genes (Figure) that code for hydrolases and multiple membrane, activation and transport proteins, including non-lysosomal ones, necessary for the complex function of the lysosomes themselves.Faced with a difficult clinical diagnosis, especially at the onset, because it is characterized by overlapping and non-specific clinical pictures, the molecular diagnosis of lysosomal diseases plays an important role in the need for early diagnosis and the possibility of new pathogenic therapies already available or under study.