The IEM programme is focused on Lysosomal Storage Disorders (LSDs), in particular on those due to sulfatase deficiencies. These are caused by genetic defects that affect the synthesis or processing of lysosomal hydrolases. A lysosomal disorder can be due to a defect in a specific hydrolase, by deficiencies in activator proteins, in the receptors or in the trafficking of enzymes.

Sulfatase deficiencies have been a long-standing interest of TIGEM researchers dating back to 1987 with the identification of the first human sulfatase gene, steroid sulfatase (STS), involved in X-linked ichthyosis 1 and, years later, of the arylsulfatase E (ARSE) gene involved in X-linked recessive chondrodysplasia punctata 2. This interest has continued at TIGEM with the identification in 2003 of the Multiple Sulfatase Deficiency (MSD) gene, named Sulfatase Modifying Factor 1 (SUMF1), which encodes a sulfatase activator playing a crucial role in the activity of all sulfatases. The latter discovery is likely to have a considerable impact on enzyme replacement therapy of at least three different diseases due to sulfatase deficiencies.

The IEM programme gathers the expertise of TIGEM researchers in the genetic, metabolic and biochemical aspects of sulfatase deficiencies and takes advantage of extraordinary resources, such as biological samples and cultured cell lines from knock-out mice and patients with LSDs.

An additional strength of the IEM programme is the fruitful collaboration with the Department of Pediatrics of the Università degli studi di Napoli Federico II, which has long-standing experience in the field of clinical genetics and metabolic medicine, particularly in the diagnosis and clinical management of patients affected by Mucopolysaccharidosis (MPS) and other lysosomal storage disorders. Its medical staff has developed a particular clinical and scientific interest on innovative therapeutic approaches that will aid TIGEM in its attempts to connect, more directly, basic research to patient care for LSD.