A novel finding on Kabuki syndrome, a rare genetic disease

The research, coordinated by the University of Trento, has recreated for the first time the pathological condition in a test tube discovering what happens in the cell nucleus and what hinders the formation of cartilages and bones.

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Orchard Therapeutics Receives Positive CHMP Opinion for LibmeldyTM for the Treatment of Early-Onset Metachromatic Leukodystrophy (MLD)

First therapy recommended for EU approval for eligible patients with confirmed diagnosis of late infantile or early juvenile MLD variants.

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Osteopetrosis: new opportunity of treatment thanks to a licensing agreement

SiSaf announces a research collaboration and licensing agreement with the University of L’Aquila for the treatment of the debilitating bone disease, Autosomal Dominant Osteopetrosis Type 2.

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Discovery of a novel drug candidate to develop effective treatments for brain disorders

Researchers at IIT-Istituto Italiano di Tecnologia discovered a novel chemical compound, which has the potential to became a new drug for the treatment of core symptoms of brain disorders like Down syndrome and autism.

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Study of genetic condition leads to discovery of mechanism that promotes the formation of renal cysts and tumours, thanks to the support of Telethon and AIRC

At the Telethon Institute of Genetics and Medicine (Tigem) in Pozzuoli, the team led by Andrea Ballabio has described in Nature* how the study of a rare genetic condition has provided the key to understanding a mechanism that leads to the formation of cysts and tumours in certain organs, in particular the kidneys. Supported by Fondazione Telethon, Fondazione AIRC for cancer research and Regione Campania, the study included the participation the European Institute of Oncology (IEO) and the Institute of Cell Biology at the University of Innsbruck

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Beta Thalassemia: clinical trial provides encouraging evidence for efficacy of gene therapy

Gene therapy, especially if administered early, could be an effective treatment strategy for beta thalassemia, a genetic disease that is quite common in Mediterranean countries, affecting over 7000 patients in Italy only.

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A new ingredient to potentiate gene therapy in stem cells

A new study published by the research team led by Anna Kajaste-Rudnitski at the San Raffaele Telethon Institute for Gene Therapy (SR-Tiget) in Milan, shows that a naturally occurring compound significantly increases the efficiency of lentiviral vector-mediated gene transfer in blood stem cells.

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From epigenetics - new molecular switches to silence genes

It is possible to silence a desired gene by hiding it from the molecular machinery that has the task of reading it and expressing its function. This is the result of a research carried out at the San Raffaele Telethon Institute for Gene Therapy (SR-Tiget).

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Preliminary results reporting the safety and effectiveness of gene therapy in patients with metachromatic leukodystrophy published in The Lancet

The gene therapy developed in the laboratories of the San Raffaele Telethon Institute for Gene Therapy in Milan (SR-Tiget) remains effective as a potential early treatment of metachromatic leukodystrophy (MLD).

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