Emanuele Buratti, Molecular Pathology, collaborates on the Telethon project SPLICESCREENPD: for splicing-modifying factors for late onset Pompe Disease. On Saturday, 30 November, the 21st edition of the Telethon Relay, promoting Telethon research, will take place in Udine, FVG Region, Italy. (Read more)
Thanks to the support of Telethon, Emanuele Buratti, ICGEB Trieste and Andrea Dardis, Centro Malattie Rare, Ospedale Santa Maria della Misericordia, Udine, have been working on finding innovative therapies for late onset Pompe Disease that is an inherited pathology characterised by a defect in glycogen metabolism.
In recent years, the two research teams have been using the ICGEB high throughput screening facility to identify new molecules capable of reducing this accumulation.
Emanuele Buratti is a prominent scientist in this area of research as well as an active presence in related initiatives for the broader community.
Further information on the research activities of the Molecular Pathology Group is available on our site. as well as the contact for Emanuele Buratti, should you wish to support this research project.