Genetics and Rare Diseases Area
Model organisms and rare diseases
Research Activity
Our focus is the characterization of new genes involved in ultrarare diseases and the functional analysis of gene variants. The main interest is related to neurometabolic diseases (in particular the development of innovative treatments for specific mitochondrial disorders) and developmental disorders (such as ciliopathies), as well as the role of genes with unknown function in the etiology of pediatric-onset disorders. For this purpose we employ different models, including multicellular organisms, such as the nematode C. elegans, Zebrafish and mouse models.
Team Members
Prof. Eva Trevisson – Principal Investigator
Dr. Cristina Cerqua – Post Doc
Dr. Valeria Morbidoni – Post Doc
Dr. Elena Tacchetto – PhD Student
Dr. Giulia Toffanin – PhD Student
Dr. Chiara Canciani – Research Fellow
Selected Publications
• Franco-Romero A, Morbidoni V, Milan G, Sartori R, Wulff J, Romanello V, Armani A, Salviati L, Conte M, Salvioli S, Franceschi C, Buonomo V, Swoboda CO, Grumati P, Pannone L, Martinelli S, Jefferies HB, Dikic I, van der Laan J, Cabreiro F, Millay DP, Tooze SA, Trevisson E, Sandri M. C16ORF70/Mytho promotes healthy aging in C. elegans and prevents cellular senescence in mammals. J Clin Invest. 2024 Jun 13:e165814. doi: 10.1172/JCI165814.
• Morbidoni V, Agolini E, Slep KC, Pannone L, Zuccarello D, Cassina M, Grosso E, Gai G, Salviati L, Dallapiccola B, Novelli A, Martinelli S, Trevisson E. Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy. J Med Genet. 2021;58(8):526-533. doi: 10.1136/jmedgenet-2020-106833.
• Morbidoni V, Baschiera E, Forzan M, Fumini V, Ali DS, Giorgi G, Buson L, Desbats MA, Cassina M, Clementi M, Salviati L, Trevisson E. Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of NF1 Variants. Cancers (Basel). 2021;13(5):999. doi: 10.3390/cancers13050999.
• Gambarotto L, Metti S, Chrisam M, Cerqua C, Sabatelli P, Armani A, Zanon C, Spizzotin M, Castagnaro S, Strappazzon F, Grumati P, Cescon M, Braghetta P, Trevisson E, Cecconi F, Bonaldo P. Ambra1 deficiency impairs mitophagy in skeletal muscle. J Cachexia Sarcopenia Muscle. 2022;13(4):2211-2224.
• Dentici ML, Niceta M, Lepri FR, Mancini C, Priolo M, Bonnard AA, Cappelletti C, Leoni C, Ciolfi A, Pizzi S, Cordeddu V, Rossi C, Ferilli M, Mucciolo M, Colona VL, Fauth C, Bellini M, Biasucci G, Sinibaldi L, Briuglia S, Gazzin A, Carli D, Memo L, Trevisson E, Tartaglia M. Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis. Eur J Hum Genet 2024. doi: 10.1038/s41431-024-01642-7.