Lysosomal storage diseases (LSDs) are a heterogeneous family of hereditary metabolic disorders caused by lack or deficiency of lysosomal enzymes leading to non-degraded substrate storage. LSDs are about 50 systemic pathologies, which affects different organs and apparatus.LSDs are characterized by a diagnostic delay, since clinical signs overlap with other pathologies, making diagnoses of LSDs are still difficult. Patients with signs and symptoms attributable to LSDs usually contact ten different clinicians over ten years before having a correct diagnosis; therefore, early diagnosis is crucial for LSDs.
- characterization of genetic and biochemical alterations, improving assays workflow, in order to confirm clinical diagnosis in patients with suspected LSDs;
- study of expression regulation of genes involved in LSDs pathogenesis, in order to improve the knowledge of these diseases;
- study of different genetic mutations effects on altered cellular metabolism, and patients’ clinical manifestations;
- identification of new molecular biomarkers, for early and prompt diagnosis, and for monitoring therapy;
- screening of selected populations in order to identify patients with misdiagnosis, who have incorrect diagnosis despite affected by LSD.