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LYSOSOMAL STORAGE DISORDERS & TREATMENT

Lysosomal Storage Disorders (LSD’s) are a group of approximately 50 rare inherited metabolic disorders.

This is a heterogeneous group of rare disorders with disastrous consequences on patients’ life. For all these disorders, the diagnosis relies on the presence of clinical features, whereas there are no sensitive biomarkers to ensure early diagnosis.

The advent of the enzyme replacement therapy (ERT) (which is now a significant treatment option) highlighted even more the need of finding biomarkers which lead to the early diagnosis of these diseases. Additionally, the discovery of this specific treatment underlines the need of finding biomarkers for monitoring patients.

The extracellular matrix seems to be affected on patients with LSDs. However, up to now, this still has not been studied on patients.

Studying the expression of molecules on the extracellular matrix of patients with lysosomal storage disorders

THE MEDICAL RESEARCH AND AUTHORING ACTIVITY

The research goal of Dr. Spyros Batzios is to find biomarkers for the diagnosis of patients with lysosomal storage disorders.

In the framework of his research, Dr. Spyros Batzios has studied the expression (in protein and gene level) and the enzyme activity of the metalloproteases of the connective tissue as well as of the tissue inhibitors on patients with syndromes such as the Hunter, the Sanfilippo and the Maroteaux-Lamy as well as with diseases such as the Pompe, the Krabbe and the Niemann-Pick.

In the future, the expression of hyaluronic acid and the enzymes which participate on the metabolism (hyaluronidases and hyaluronan synthase) as well as the expression of many proteoglycans, will be studied on the same patients.

At the same time, Dr. Spyros Batzios is active in the area of “Medical Art”, since along with two other authors, he has been writing fairytales for children who suffer from cancer.

International Awards

- 2nd award in the ‘International Workshop on Lysosomal Storage Disorders’. His project received an award, in 2009, amongst hundreds of others and was financed by the Shire, Human Genetic Therapies company for the continuation of his research.

- “Young Investigator” Prize at 43rd Pediatric Society Symposium in Northern Greece for the project entitled “Investigation of gelatinases expression in patients with lysosomal storage disorders” in Thessaloniki, 27-28 April 2013.

- Fellowship by the ‘Society for the study of Inborn Errors of Metabolism’ for participating in the ICIEM 2013 conference (Barcelona, 3-6th September 2013) and the project presentation entitled "Altered expression of MMP-2 and MMP-9 in the serum of patients with lysosomal storage disorders".

ARISTOTLE UNIVERSITY OF THESSALONIKI

This email address is being protected from spambots. You need JavaScript enabled to view it., pediatrician (PhD of the School of Medicine, AUTH), Scientific Collaborator, 1st Pediatric Clinic of AUTH.

http://www.med.auth.gr/school/deltia/TEYXOS-39.pdf