News from Research
01 / 01
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.
L’instancabile squadra di volontari AVIS di Robbio
Da volontario AVIS di Robbio, in provincia di Pavia, Francesco ci racconta un’associazione da sempre vicina alla nostra missione, ma anche un territorio dal grande cuore, sempre pronto a scendere in campo per la ricerca sulle malattie genetiche rare.
Lorenzo wants to go far
“I can’t walk”. When you hear those words on the lips of a child below the age of three, it’s hard to turn your back and walk away. Imagine you’re the child’s parents. The words came out with the composed calmness of a fact of nature.
Against mitochondrial diseases together with Andrea
Knowing that the machine you need to breathe with has just one hour’s run time doesn’t make life very easy!
First gene therapy to receive full EU marketing authorization for eligible MLD patients. One-time treatment with Libmeldy has been shown to preserve motor and cognitive function. Achievement shared with research alliance partners Fondazione Telethon and Ospedale San Raffaele.
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.
Awarded Telethon Farmindustria Prize to three young researchers
Farmindustria and Fondazione Telethon have awarded three prizes of 10,000 euros to young researchers who work in the neonatology field.
Fondazione Roche rewards a young researcher of Tigem in Naples
Funded the research project by Paolo Grumati dedicated to the study of a neurodegenerative disease that causes generalized sensory loss.