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...
About: Fondazione Malattie Rare Mauro Baschirotto
Recent Posts by Fondazione Malattie Rare Mauro Baschirotto
Lafora Gene Therapy Project for Federico and others
0 Submitted by Fondazione Malattie Rare Mauro Baschirotto on Thu, 13 May 2021, 16:04The 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...
Happy Easter 2021
0 Submitted by Fondazione Malattie Rare Mauro Baschirotto on Fri, 02 April 2021, 13:30The best wishes for a really happy Easter from the Mauro Baschirotto Institute for Rare Diseases B.I.R.D....
Goodbye Paolo
0 Submitted by Fondazione Malattie Rare Mauro Baschirotto on Thu, 10 December 2020, 17:21Hi 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...
A Charity Lottery in Trissino for the Giada Project
0 Submitted by Fondazione Malattie Rare Mauro Baschirotto on Fri, 17 July 2020, 10:05A charity event in support of research will take place at the Institute of Professional Training in Trissino, Monday 20th July. This is for the Giada Project, aiming the Giant Melanocytic Naevus...
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