The 10 winners of research projects for the study of rare genetic diseases

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The Spring Seed Grant call, now in its fourth edition, is giving away 500 thousand euros to start a research path on poorly studied topics

Announced by
Telethon Foundation
the winners of the Spring Seed Grant 2022, now in its fourth edition to help associations of patients with rare genetic diseases to invest their funds in a targeted manner, with seven associations involved. There are ten research projects funded for the study of six rare genetic diseases, for a total of 500 thousand euros. “The seed grant has been consolidated over the years, with more and more patient associations choosing to invest their funds in scientific research,” said Francesca Pasinelli, director general of the Telethon Foundation.

The “seeds” and rare genetic diseases

As the word indicates seed, each loan represents a “seed” to be sown to start a research path on a poorly studied topic, as often happens in the context of rare genetic diseases. Each project was evaluated by a scientific commission made up of internationally renowned researchers who are experts in the pathology. To date, a total of 37 projects have been funded to study twenty rare genetic diseases, for a total investment of over 1.8 million euros.

The winning projects

Two projects financed on the Phelan-McDermid syndromewhich from the age of 2-3 compromises motor and intellectual development: that of Letizia Allegra Mascaro (CNR of Florence) is that of Luca Colnaghi of the UVita Salute San Raffaele University of Milan. Two projects dedicated to the study of Anderson-Fabry disease which can lead, in the most serious cases, to kidney failure, heart attack or stroke: that of Maria Antonietta De Matteis of the Telethon Institute of Genetics and Medicine (Tigem) of Pozzuoli is that of Paola Priest of the University of Milan. Two projects also for the Rett syndromeneurological disease that mainly affects women and represents one of the most common causes of severe disability, presented by Flavia Antonucci of the University of Milan and from Dario Balestra of the University of Ferrara. The project dedicated to atypical hemolytic-uremic syndrome (SEU)rare disease characterized by platelet consumption, hemolysis and kidney damage, will be that of Ilaria Bestetti of the Center for the treatment and study of the HUS of the Ca ‘Granda Policlinico Foundation in Milan. Two other projects will concern the Lafora’s disease (LD), a severe form of hereditary progressive epilepsy. If they were awarded by Paolo Prontera of the Perugia hospital And Stefania Della Vecchia, researcher at the Stella Maris Foundation in Pisa. Finally, the project dedicated to mutations of the CAMK2b geneassociated with a rare disorder that falls on the autism spectrum was presented by Claudia Compagnucci of the Bambino Gesù Pediatric Hospital in Rome.

September 19, 2022 (change September 19, 2022 | 17:05)

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The 10 winners of research projects for the study of rare genetic diseases

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