About: Fondazione Malattie Rare Mauro Baschirotto

Recent Posts by Fondazione Malattie Rare Mauro Baschirotto

New Scientific Article on Lesch-Nyhan Disease by B.I.R.D.

0 Submitted by on Fri, 06 August 2021, 09:09
Lesch-Nyhan Disease (LND) is a rare X-linked disorder involving purine metabolism. Its incidence in the population is estimated at 1: 350,000 births and is due to mutations in the HPRT1 gene. In order to better understand the nature of the deletions of this gene, in the scientific study “Detailed Study of HPRT1 Gross Deletions Found in 10 Italian Lesch-Nyhan Families” Continue Reading...
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Lafora Gene Therapy Project for Federico and others

0 Submitted by on Thu, 13 May 2021, 16:04
The Mauro Baschirotto Association for Rare Diseases carries out its activities both nationally and internationally. Hence the need to rethink its organizational structure, taking into account the growing needs associated with new collaborative projects with healthcare facilities in other regional contexts. Of particular importance are those recently launched with the Umbrian Healthcare facilities (specifically with the Santa Maria della Misericordia Continue Reading...
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Goodbye Paolo

0 Submitted by on Thu, 10 December 2020, 17:21
Hi Paolo.Thank you for Believing and Supporting our Gene Therapy Project.“I run for Gene Therapy” is a historical slogan of the “Mauro Baschirotto” onlus Rare Diseases Association.The images that we have found from our archive date back to 1996, on the occasion of the 79th stage of the Giro D’Italia and the Serie A Vicenza Inter match.Paolo Rossi (23rd September Continue Reading...
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