15.11.24
Dawn's reflection: hope from Tigem research
The child, born with mucopolysaccharidosis type 6, was treated with gene therapy in 2020 and to date her liver is able to produce the missing enzyme that causes the disease.
11.10.24
A hope twelve thousand kilometres long
The story of Amari, who came from the small Caribbean Island of Trinidad to Milan to receive gene therapy for his rare genetic disorder of the immune system.
02.08.24
Violet's story: between research and outreach
The Canadian girl was born with mucopolysaccharidosis type 6. With help from the Isaac Foundation, she received important therapies in her country and participated in Italy in the trial developed by the Telethon Institute of Genetics and Medicine.
08.07.26
Genespire and SR-Tiget show durable preclinical efficacy of liver-directed gene therapy for methylmalonic acidemia
The spin-off of Fondazione Telethon and Ospedale San Raffaele reports positive results in preclinical models of this rare metabolic disorder, further supporting the path toward first-in-human application.
02.07.26
Fondazione Telethon to lead €30 million ERDERA European call
The initiative, dedicated to funding clinical studies on rare diseases, will include active patient organization involvement at every stage of research.
23.06.26
ESMRank: using AI to predict the effects of protein mutations
At TIGEM, ESMRank uses artificial intelligence to rank protein mutations and help researchers interpret genetic variants linked to disease.
