Unibo research funded by Telethon

Fondazione Telethon is one of the major Italian charity. Since 1990, its goal has been to raise funds to excellent biomedical research on rare genetic diseases.

Thanks to the Telethon support, Unibo researchers can carry on the struggle against genetic diseases. The foundation selects and supports the best research projects, considering both their relevance with Telethon’s mission and the closeness to a cure.

Here you find the ongoing projects related to Unibo researchers, both as coordinators and partners.

Published Molecular mechanisms inderlying brain alterations in the CDKL5 variant of rett's syndrome
Coordinated by Elisabetta Ciani from Biomedical and Neuromotor Sciences Department – DIBINEM with Laura Calzà and Giovanni Perini from Pharmacy and Biotechnology Department – FaBiT with Consiglio Nazionale delle Ricerche - CNR as external partner.
Published Systematic gene hunting for nuclear modifiers in leber's hereditary optic neuropathy and their validation in model systems
Coordinated by Valerio Carelli from Biomedical and Neuromotor Sciences Department – DIBINEM. Also the universities of Bari and Trieste alongside other research centers take part at this study.
Published In-depth clinical and genetic study of familial and sporadic patients with nocturnal frontal lobe epilepsy (nfle): identification of new genes by wes in 192 cases negative for mutations in the neuronal nicotinic acetylcholine receptor subunits genes
Coordinated by Paolo Tinuper from Biomedical and Neuromotor Sciences Department – DIBINEM in cooperation with Tommaso Pippucci from Genetical medic Unit of “Policlinico Sant'Orsola Malpighi” hospital in Bologna.
Published Preventive therapy of mental retardation in down syndrome by a novel gamma-secretase inhibitor: focus on app-dependent mechanisms in neurodevelopment.
Coordinated by Renata Bartesaghi from Biomedical and Neuromotor Sciences Department – DIBINEM with Laura Calzà from Pharmacy and Biotechnology Department – FaBiT. Also the University of Pavia is partner of this research.
Published Combining next generation sequencing with clinical studies to unravel novel inherited thrombocytopenias affecting half of the patients
Marco Seri from Medical and Surgical Sciences Department – DIMEC, coordinates this research. Other partners are the University of Trieste and the “Policlinico San Matteo” hospital from Pavia.
Published Clinical, neuroradiological and molecular investigation of adult-onset autosomal dominant leukodystrophy (adld): dissection of lamin b1-mediated pathophysiological mechanisms in cellular and mouse models
Pietro Cortelli from Biomedical and Neuromotor Sciences Department – DIBINEM is partner of this research project coordinated by Istituto Italiano di Tecnologia and University of Torino.
Published Mitochondrial aspartate/glutamate carrier 1 deficiency: pathogenetic mechanisms and mutational analysis
Barbara Monti from Pharmacy and Biotechnology Department – FaBiT is partner of this research project coordinated by University of Bari and with the cooperation of University of Ferrara and Istituto neurologico Carlo Besta.
Published MITCARE-2
Valerio Carelli from Biomedical and Neuromotor Sciences Department – DIBINEM is partner of this research project coordinated by the Università di Padova.