FONDAZIONE TELETHON ETS

Their core work

Fondazione Telethon is Italy's leading charitable research foundation dedicated to developing gene therapies and treatments for rare genetic diseases. They run a vertically integrated research pipeline — from basic biology of lysosomes and cellular trafficking through to clinical-stage gene therapy trials for inherited blindness and neurodegenerative conditions. Their work spans functional genomics, iPSC generation, gene editing, and AAV vector development, with a strong track record of translating fundamental discoveries into therapeutic candidates. They also coordinate European networks for rare disease research infrastructure and training.

What they specialise in

How they've shifted over time

In their early H2020 period (2016–2018), Telethon focused heavily on fundamental biology — lysosomal function, membrane trafficking, autophagy, and bone physiology — alongside initial gene therapy development for inherited retinal diseases using AAV vectors. From 2019 onward, the focus shifted decisively toward translational and precision medicine: clinical-stage gene therapy (UshTher clinical trial, UPGRADE's precision gene therapy at EUR 5M), single-cell genomics, genome editing, and participation in large European rare disease coordination programmes. This evolution shows a clear trajectory from basic science toward therapeutic application and clinical readiness.

Telethon is moving from discovery-stage research toward clinical-ready gene therapies and advanced editing platforms, making them increasingly relevant for industry partners seeking therapy development collaborators.

How they like to work

Telethon primarily leads its own research — coordinating 13 of 22 projects (59%), including all their ERC grants and the largest funded efforts. They operate comfortably in both small focused teams (ERC projects) and large consortia (EJP RD with broad European participation). With 252 unique partners across 39 countries, they function as a well-connected hub rather than a closed shop, making them accessible for new collaborators who bring complementary clinical or industrial capabilities.

Telethon has collaborated with 252 unique partners across 39 countries, indicating a truly global research network anchored in Europe. Their partnerships span academic institutions, clinical centres, and rare disease networks, with particular density in Western European countries active in gene therapy and rare disease research.

What sets them apart

Telethon occupies a rare position as a charitable foundation that operates like a top-tier research institute, combining deep in-house scientific capability with a mission-driven focus on rare genetic diseases. Their vertical integration — from TFEB biology and lysosomal research through AAV vector engineering to actual clinical trials (UshTher) — means they can take a project from bench to bedside under one roof. For potential partners, this means working with an organization that has both the scientific depth of an ERC grantee and the translational infrastructure to move discoveries toward patients.

Highlights from their portfolio

• UPGRADE
  Their largest project (EUR 5M), coordinated by Telethon, advancing precision gene therapy with targeted gene/epigenome editing and non-viral vectors for hematopoietic and muscular diseases.
• UshTher
  A clinical trial of dual AAV gene therapy for Usher syndrome blindness — one of the few H2020 projects taking a rare disease gene therapy all the way to patients.
• LYSOSOMICS
  A 6-year ERC-funded deep dive into functional genomics of the lysosome, representing Telethon's foundational expertise that feeds into their therapeutic programmes.