Clinica Pediatrica, “Ospedale dei Bambini”, Università di Brescia
Key words: Gene Therapy, Metabolic Disease, Reference Centres
The treatment of genetic diseases is not fruit of the imagination, although too many hasty statements, such as those on gene therapy, created a deep disappointment. Effective medical actions include marrow grafting, replacement treatments (enzymes, immunoglobulins, red blood cells), coenzyme-based treatments (large doses of vitamins) or dietetic control (phenylalanine, proteins). However, the results in terms of quality of life improvement are lower than stated. Social and life rehabilitation is the ultimate goal, but it is often achieved only partially. Aspects such as rarity, peculiarity, diagnostic difficulty for each single disease, as well as the personal and social implications of the problem as a whole, require a limited number of networked reference centres with high potentials to be identified and strengthened.
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