Clévio Nóbrega, researcher at the Center for Research in Biomedicine (CBMR) of the University of Algarve (UAlg), working in the area of neuroscience, in particular in the application of gene therapy to neurodegenerative diseases, won the 2016 Portuguese Society of Human Genetics award .
Awarded to the most excellent scientific article published in the field of genetics, the award aims to distinguish Portuguese researchers whose work stands out on the international scene.
This year, the distinction was awarded to the researcher of the CBMR for the publication of the article «Reestablishing Ataxin-2 downregulates translation of mutant ataxin-3 and alleviates Machado-Joseph disease», a work published last year in the magazine «Brain».
Having been chosen by the editor at the time, the article proposes to investigate the role and relevance of the «ataxin-2» protein in Machado-Joseph disease (JDM).
This is a hereditary disease, with no cure so far, being characterized by «motor incoordination, muscle atrophy and stiffness of the limbs», causing, as the researcher explains, «difficulties in swallowing, speaking and vision».
In this scientific work, Clévio Nóbrega and his peers hypothesize that the protein «ataxin-2», a protein that has an important cellular function, is reduced in Machado-Joseph disease, speculating the researchers on the hypothesis that the replacement of levels of this protein can alter the progression of the disease and even contribute to an improvement.
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