XXII SCIENTIFIC CONVENTION
The Scientific Convention has officially started!
The XXII Scientific Convention of Fondazione Telethon is taking place at the Palacongressi of Rimini. As every year, this event reunites all researchers supported by Fondazione Telethon, conducting research in the field of rare genetic diseases.
The event is a precious occasion to build fruitful collaborations and stimulate discussion on advancement and challenges of biomedical research in rare diseases!
Discover the talks of our researchers!
Monday, 17th March 2025 – afternoon
PLENARY TALK
Sestrin2 drives ER-phagy in response to protein misfolding
Chiara De Leonibus - Telethon Institute of Genetics and Medicine
FLASH PRESENTATION
Impaired nuclear glycogen metabolism affects liver homeostasis in Argininosuccinic aciduria
Leandro Soria - Telethon Institute of Genetics and Medicine
Tuesday, 18th March 2025 – morning
PLENARY TALK
Mutation-independent genome editing approaches for treatment of Stargardt disease
Ivana Trapani - Telethon Institute of Genetics and Medicine
FLASH PRESENTATION
Copper-mediated DNA damage influences AAV integration profiles in gene therapy and genome editing for Wilson disease
Agnese Padula - Telethon Institute of Genetics and Medicine
ROUND TABLE
- From project to product: how can a scientist trigger pharma interaction?
- Strategies and challenges in biomedical research
Alberto Auricchio - TIGEM Scientific Director
PLENARY TALK
Dysregulation of lipid droplet dynamics induces mitochondrial stress and promotes fibrosis, driving the progression of chronic kidney disease in Lowe syndrome
Leopoldo Staiano - Telethon Institute of Genetics and Medicine
Wednesday, 19th March 2025 – morning
PLENARY TALK
mRNA-replacement therapy for Glycogen Storage Disease type 1b
Lucia De Stefano - Telethon Institute of Genetic and Medicine
FLASH PRESENTATION
Gaining insight into the role of noncoding RNAs in Inherited Retinal Disease by RNA-seq-based approaches
Dalila Capasso - Telethon Institute of Genetic and Medicine
PLENARY TALK
A Pipeline for drug discovery in Lowe Syndrome
Antonella De Matteis, Telethon Institute of Genetics and Medicine
FLASH PRESENTATION
Combining phenotypic high-content imaging with the repurposing of drugs to tackle lysosomal storage disorders
Sandro Montefusco, Telethon Institute of Genetics and Medicine