We are pleased to share the news that Elvira De Leonibus
, Group Leader and Head of the Behavioral Core at TIGEM, was granted a Telethon Spring Seed Grant.
With this financial support, the research group led by Elvira De Leonibus will investigate new mechanisms of neurodegeneration in mucopolysaccharidosis type IIIA, also known as Sanfilippo syndrome. The disease is caused by the loss of function of an enzyme involved in the elimination of various molecules, including heparan sulfate, when these are no longer needed by the cell. This leads to an anomalous accumulation of heparan sulfate in specific organelles, resulting in their malfunction. This particular malfunction is considered the primary cause of the neurodegeneration in the syndrome, but De Leonibus' group has shown that the function of heparan sulfate itself is also altered in the disease. Hence, the objective of the study is a better understanding of the functional alterations of this molecule in neurodegeneration.
With the "Seed Grant'' initiative, which began in 2019, the Telethon Foundation offers patient associations support in the targeted investment of their funds, helping them to select the most deserving research projects for their pathology of interest. Six new research projects won the 2023 “Spring Seed Grant” call related to six rare genetic diseases and funded by a sum of 315,000€.