Monthly Archives: August 2021

Important News about Research on Aggressive Desmoid Fibromatosis

0 Submitted by on Fri, 20 August 2021, 09:14
Doctor Daniela Segat, senior researcher and head of the Aggressive Desmoid Fibromatosis Project at the "Mauro Baschirotto" Rare Disease Institute in Costozza di Longare (Vicenza), will speak at the 8th Annual DTRF International Research Workshop in Philadelphia with a report in which he will present the important results of his research and the creation of the cellular model of the disease by means of the innovative “Cut and sew of genes” method called CRISPR / Cas9....
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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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