Telethon Italia

PIONEERING RESEARCH AND TREATMENTS
FOR RARE GENETIC DISEASES


Daybreak is a passionate supporter of those who set out to explore, discover and innovate
in the quest to cure rare genetic disorders.

$ 504
Millions
invested
449
Diseases studied
1,547
Researchers funded
9,836
Scientific results published

”Slide Source: Fondazione Telethon Italia Annual Report (June 2014)”

Fondazione Telethon Italia:
World class research

”2009-2013: Citation index - Average number of citations/paper (Source: Thomson Reuters)”

Fondazione Telethon Italia: Changing Lives Worldwide

Fondazione Telethon Italia: closer to Therapy

These projects are being developed by Fondazione Telethon’s intra-mural institutes in Milan and Naples. The therapeutic strategies in this list are part of a pipeline managed by the foundation with the goal of producing viable therapies available to all the patients in need. This is achieved engaging all the actors bringing the regulatory and productive expertise needed. This is done, for example, through alliances* with industrial partners to reach full completion of the drug development process.

Early pre-clinical
development
Chronic granulomatous disorder*
Globoid leukodystrophy*
Mucopolysaccaridosis type IIIa
Leber congenital amaurosis
Hemophilia
Stargardt disease
Alpha 1-antitrypsin deficiency
IPEX syndrome
Usher syndrome
Pyruvate Dehydrogenase Complex Deficiency
Crigler-Najjar syndrome
Pompe disease
Wilson’s disease
Retinitis pigmentosa
Advanced pre-clinical
development
Beta thalassemia*
Mucopolysaccaridosis type I*
Mucopolysaccaridosis type VI
Clinical
trial
Ada-Scid*
Metachromatic leucodystrophy*
Wiskott Aldrich syndrome*

Fondazione Telethon Scientific Committee:
the focus is on patients’ needs

The 30 members of the Telethon Scientific Committee on June 20-21, 2014 gave their final assessment of 160 projects that have passed all previous stages of the 2013 selection process.
The 2014 grantees will be selected in June 2015.

The evaluation is based on criteria such as originality and feasibility of the project, the adequacy of the requested funding to the proposed objectives, the relevance of the experimental plan with respect to the genetic disease addressed by the project and the proximity to the cure. In evaluating the proposals, the Committee makes use of a peer-review process.

Before the plenary discussion, each project proposed is evaluated by three members of the Committee and at least two external reviewers selected from the international arena.

This process is indispensable to ensuring that only the best projects are chosen.

Andrea Ballabio and TIGEM:
understanding lysosomial diseases and more