Eugenio Fornasiero of the Department of Life Sciences at the University of Trieste has been awarded € 248,000 by the Telethon-Cariplo Call for Proposals to fund a research project on neurodevelopmental disorders.

The initiative, which the two Foundations commit to continuing into the future, is dedicated to clarifying those still obscure aspects of the human genome potentially responsible for rare diseases.

Now in its third year, the Fondazione Cariplo and Fondazione Telethon call for proposals has led to the selection of 14 new research projects, for a total of € 3.2 million and 22 research groups involved.

In Friuli-Venezia Giulia, € 248,000 have been allocated to fund a project of the University of Trieste.

This brings the total joint investment by the two Foundations to almost € 14 million, which has led to the funding of 59 research projects involving 90 Italian research centres.

This initiative, inspired by a programme of the US National Institutes of Health (NIH), aims precisely to ‘illuminate the darkest portion of the human genome’, inviting researchers to study genetic aspects and molecular mechanisms that are still largely unknown or poorly understood, but which represent potential for the development of new therapies for rare diseases. In particular, projects were to focus on the study of so-called T-dark targets, for which information on structure, function and interaction with molecules and drugs is unknown. Although the human genome has been completely sequenced, we still know very little about many genes and the proteins they encode. Suffice it to say that of the 4500 human proteins considered to be possible pharmacological targets, only 700 are currently in the crosshairs of approved drugs: this means that of all the others, more than 80 per cent, there could be proteins that are suitable to be studied in order to develop new therapies, but for several reasons are not being studied.

Eugenio Fornasiero from the Department of Life Sciences at the University of Trieste will coordinate a study on neurodevelopmental disorders. In particular, the project focuses on a specific gene called CCDC32, classified as TDark of which we have very limited knowledge. The loss of function of CCDC32 is the direct cause of a rare and non-specific syndromic intellectual disability,

often accompanied by physical abnormalities. By delving into its function, the fundamental basis for understanding not only this specific gene, but also the more general mechanisms underlying rare intellectual disabilities and associated physical malformations will be provided.

As far as the geographical distribution of the research centres involved is concerned, most - 14 out of 22 - are located in Lombardy; the others are in Emilia-Romagna, Friuli Venezia Giulia, Marche, Piedmont and Tuscany. Among the pathologies under study are certain forms of muscular dystrophy such as Duchenne’s and facio-scapulo-humeral dystrophy, blood diseases such as haemochromatosis, haemorrhagic telangiectasia and thalassaemia, but also neurodevelopmental disorders and rare tumours.

A total of 77 project proposals were submitted by Italian non-profit, public or private research organisations. Of these, 69 were deemed suitable and submitted to the evaluation process, entrusted to a medical-scientific commission of 15 internationally renowned scientists from all over the world and chaired by Dr. Massimo Pandolfo of Mc Gill University in Montreal (Canada). For the evaluation of the projects, the peer-review method was used, which indicates the critical assessment that a work or publication receives from specialists with similar skills to those of the person submitting it, guaranteeing the transparency and fairness of the evaluation.