Awarded to the Neuromed Foundationwith the project presented by Dr. Vittorio Maglioneof the Laboratory of Neurogenetics and Rare Diseases, a loan from the Cariplo and Telethon Foundations. The chosen project, one of the twenty-four selected in Italy among the over two hundred candidates, will aim atidentification of hitherto unknown genes that may play a role in Huntington’s diseasea rare genetic disorder that involves the degeneration of specific areas of the brain, causing a gradual inability to move and speak, along with severe mental disorders.
Thanks to this project, which will be carried out in collaboration with the group of Professor Graziano Martello of the University of Padua, it will be possible to attribute a function to several hitherto little studied genes, thus expanding the scientific knowledge on this very serious pathology.
“Of Huntington’s disease – says Maglione – we know the genetic mutation that determines it, which leads to the production of a protein, huntingtin, in a pathological form. Mutated huntingtinin addition to carrying out a direct harmful action on the nervous system, it can also interfere with the function of many other genes. Our research aims to identify these other genes, whose alteration could contribute to the evolution of the disease. In particular, we will be hunting for so-called ‘Tdark’ genes, obscure we could say, for which information on structure and function is still scarce. Once identified, the hypothesis will be to intervene on animal models, even with gene therapy, to restore their function and evaluate how the disease is positively influenced “.
“Huntington’s disease – adds the doctor Alba Di Pardo, of the Laboratory of Neurogenetics and Rare Diseases – is a complex pathology. Its genetic origin is accompanied by particular situations, both from a molecular and a clinical point of view. For this Huntington needs a multidisciplinary approach, which sees the involvement of clinicians, researchers, geneticists and psychologists“.
Like other rare diseases, the challenge is not only in laboratories, but also among the people. “We must never forget – continues Di Pardo – that rare diseases are not something remote. For example, Huntington’s disease alone it affects about six thousand patients in Italy, and forty thousand are at riskor. The lack of awareness among the population is a challenge that involves us researchers even outside the laboratories, in an effort to bring citizens closer to this difficult reality “.
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