Diana Santos awarded by the SPGH

Researcher Diana Santos, from the Unit for Genetic & Epidemiological Research on Neurological Disorders (UnIGENe), was recently awarded the prize by the Portuguese Society of Human Genetics (SPGH) for the best original publication in 2016. Diana Santos explained that in the article, «we were able to identify variants in genes associated with the mechanisms of TTR (the gene responsible for familial amyloid polyneuropathy (FAP) or paramyloidosis, commonly known as “doença dos pezinhos”) and which act as genetic modifiers modulating the age at which symptoms onset».

For Diana Santos, the first author of the article, it is «a great honor and a great pleasure to receive this award» and is also «a great incentive for our group, since it motivates us even further to pursue the objective of deepening the scientific knowledge of one of the central questions of this disease, so prevalent in Portugal and whose diagnosis is becoming more delayed due to variation in age at the onset».

Carolina Lemos, one of the last authors of the article, points out that «this award is very important for the UnIGENe group and in particular for Diana Santos, who has now finished her PhD under our guidance and whose years of work in studying the variation in the age of onset of FAP has been recognized».

The i3S researcher and ICBAS professor praises this SPGH initiative for offering «motivation to all PhD students who have contributed so much to science in Portugal». Carolina Lemos also gave special thanks: «To our mentor Alda Sousa, who has always supported us and taught us everything about the challenging world of FAP, to Dr. Teresa Coelho, director of the Corino de Andrade Unit (UCA) of the Hospital de Santo António and to all those who work at the UCA and who were essential for us to study this group of patients and families and with whom we have a long and precious collaboration».

Diana Santos on the left

As counselor and last author of the award-winning article, the researcher and teacher of ICBAS Alda Sousa stresses that «it has been a privilege to work with this team. The years in which Diana Santos prepared her doctoral thesis were extraordinarily rich in teaching and interaction for all of us. They have been years of enthusiasm and passion». «It is a great source of pride to see this work recognized by SPGH, which illustrates the importance of the ongoing collaboration between basic and clinical research, such as that between UnIGENe and IICA. Both by the scientists, but especially by the patients».