Telethon and Cariplo call: 3.2 million euros for research on the dark genome

Fourteen new research projects, for a total of 3.2 million euros and 22 research groups involved. These are the numbers of the Cariplo Foundation and Telethon Foundation announcement, now in its third edition.

The joint investment by the two Foundations thus rises overall to almost 14 million euros, which led to the financing of 59 research projects involving 90 Italian research centers.

The heart of the 14 projects involved this year is research on the dark genome (or “dark DNA”) and the initiative, inspired by a program of the American National Institutes of Health (Nih), invites researchers to study the genetic aspects and the molecular mechanisms that are still largely unknown or poorly understood, but which represent a potential for the development of new therapies for rare diseases.

In particular, the projects had to focus on study of the so-called T-dark targets, for which no information is known on the structure, function and interaction with molecules and drugs. Although the human genome has been completely sequenced, we still know little about many genes and the proteins they encode. Suffice it to say that of the 4500 human proteins considered possible pharmacological targets, only 700 are currently targeted by approved drugs: that means that among all the others, over 80%, there may be proteins suitable for study to develop new therapies, but for various reasons they are not studied.

Of the research centers involved, 14 out of 22 are located in Lombardy. The others are located in Emilia-Romagna, Friuli-Venezia Giulia, Marche, Piedmont and Tuscany. Among the pathologies under study there are some forms of muscular dystrophy such as Duchenne and facioscapulohumeral dystrophy, blood diseases such as hemochromatosis, hemorrhagic telangiectasia and thalassemia, but also neurodevelopmental disorders and rare tumors.