Young i3S researcher receives international award

i3S PhD student Joana Loureiro was awarded the Charles J. Epstein Trainee Award for Excellence in Human Genetics Research by the American Society of Human Genetics (ASHG) for her work on the discovery of a mutation that causes a neurodegenerative disease affecting Portuguese individuals, SCA37. This is the first time that a researcher from a Portuguese university has won this award.

Each year ASHG rewards excellence in human genetics research with awards for researchers at different career stages. The awards are handed out at the ASHG annual meeting, attended by researchers in human genetics from universities around the world. The award-winning work, explains the PhD student, "resulted from the work of a multidisciplinary research team of which I was a part. It consisted of the discovery of the causative mutation of SCA37 spinocerebellar ataxia and the results obtained so far, which try to explain how this genetic 'error' leads to neurodegeneration in this disease".

Part of this work has already been published this year in the American Journal of Human Genetics. For the young researcher, to receive "such a competitive prize, is undoubtedly a great professional and personal achievement. It is a great honor for me and for the whole team that contributed to the success of this project".

PhD and postdoctoral fellows in human genetics from around the world can apply for this award. This year, 500 works eligible for prizes in both categories were submitted. After a committee evaluation, nine doctoral students and nine postdoctoral finalists were selected. These researchers were evaluated through scientific communications delivered at the Society's annual meeting. Three in each category were awarded the Charles J. Epstein Trainee Award for Excellence in Human Genetics Research. Among the award-winning PhD students are young researchers Joana Loureiro from i3S - University of Porto, Joseph Shin from Johns Hopkins University, and Nasa Sinnott-Armstrong from Stanford University.

Researcher Isabel Silveira, leader of the research group Genetics of Cognitive Dysfunction where doctoral student Joana Loureiro developed her work, emphasizes the importance of the prizes awarded by this society, stating that among the recipients of the ASHG recognizing careers marked by major scientific discoveries "are researchers who have contributed heavily to knowledge in medical genetics through the identification of genes as important as those associated with Huntington's Disease (James Gusella) or Duchenne Muscular Dystrophy (Louis Kunkel)". "In this type of disease, it is only after the discovery of the mutation and the mechanisms by which the mutation leads to pathology that optimal conditions for the investigation of therapies that cure or improve the living conditions of these patients are met. That is why the drugs and treatments that reach pharmacies and hospitals are the result of much work and dedication by thousands of researchers around the world for several decades", she adds.