Fondazione Telethon finances 6 research projects based in Padua
18.10.2023
Dedicated to the best scientific research into rare genetic conditions, Fondazione Telethon announces the winner of the second round of its multi-round Call for research projects 2021-2024. With over 4.3 million euros raised thanks to donations, the foundation will fund 24 research projects throughout Italy, of which six are from Padua.
Winning research projects based in Padua include:
Nicoletta Plotegher (University of Padua) will lead the research on Gaucher’s disease. Categorized as a lysosomal storage disorder, Gaucher’s disease is an inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase (GCase) results in the accumulation of harmful quantities of certain fats.
Alessandro Carrer (University of Padua Department of Biology and Veneto Institute of Molecular Medicine) will lead a study on Niemann-Pick type C disease (NPCD). With no known cure and characterized by severe neurological symptoms, NPCD is a genetic disease caused by mutations in the NPC1 gene.
Massimo Zeviani (University of Padua) will lead the research on Mitochondrial DNA (mtDNA) depletion syndromes (MDS), which include a group of mitochondrial diseases characterized by mtDNA instability. In particular, the research focuses on mitochondrial DNA (mtDNA) depletion in the liver and brain (neuro-hepatopathy).
Nina Kaludercic (University of Padua) will focus on the study of cardiomyopathy associated with Duchenne muscular dystrophy (DMD), a rare hereditary disease that involves progressive degeneration of muscle tissue.
Ildiko Szabo (University of Padua) will lead the research on mitochondrial diseases. As rare genetic diseases, mitochondrial dysfunction affects organs and tissues, such as the brain and muscle, and are associated with a wide range of clinical presentations ranging from movement disorders to growth retardation and early death.
Claudia Lodovichi (National Research Council - CNR Padua), will lead the research on the molecular mechanisms underlying the deficits in social behavior and cognitive functions associated with autism spectrum disorders.
Telethon’s multi-round Call for research projects consists of four different rounds, corresponding to four specific deadlines. With Basic Research and Preclinical Proof of Concept tracks, applicants can apply to one track per round, with one research project. Each round and track will have a dedicated peer review process and competition. For those who wish to apply, the submission deadline for the 3rd round is October 31, 2023.
