Monday, 28th February 2022: today is the 15th edition of the INTERNATIONAL RARE DISEASE DAY.
The Giornale di Vicenza talks about the “Mauro Baschirotto” Institute for Rare Diseases (B.I.R.D.). Rare Diseases amidst viruses and winds of war and the announcement of a new important incentive for research into the gene therapy of another serious disease: Lafora’s Epilepsy.
The Baschirotto Foundation presents the 11th edition of the International Award on Gene Therapy and Advanced Therapies (International Award on Gene Therapy and Advanced Therapies), a 100,000 euro call to promote research and treatment based on gene therapy.
Sunday 27 February 2022 – THE JOURNAL OF VICENZA
BASCHIROTTO INSTITUTE Tomorrow is the international day of less common diseases
Call for 100 thousand euros against rare epilepsy
The goal is to encourage research that develops a cure based on gene therapy, an innovative method that can also prove to be fundamental for other pathologies.
By Gianmaria Pitton
It manifests itself with epileptic seizures, visual hallucinations, a progressive and devastating neurological deterioration that usually emerges from adolescence. A pathology that combines, in a certain sense, the problems of ALS and Alzheimer’s. It does not yet have a cure and it is rare, very rare: of Lafora’s disease – this is the name of this form of hereditary progressive myoclonic epilepsy – few hundred cases are known all over the world, less than thirty in Italy. One of these concerns a fifteen-year-old from Perugia, who was diagnosed with Lafora’s disease in April last year: his mother Margherita embarked on a real battle to urge the scientific world to study a therapy, a very difficult undertaking when treats of rare diseases.
Margherita also turned to the Baschirotto Rare Disease Foundation, based in Costzza di Longare, which has recently opened a section in Perugia. “In May 2021 we met Mrs. Margherita – say the spouses Giuseppe Baschirotto and Anna Albarello, creators of the foundation that bears the name of their son – We decided that we could not ignore her cry for help”. Already in October they organized an international meeting on progressive myoclonic epilepsies in Perugia, inviting the world’s leading experts to take stock of the situation on the knowledge of the disease and on the prospects for treatment.
“We believed in gene therapy 30 years ago. The results are proving us right “
A new initiative will be presented tomorrow, international day on rare diseases, at a conference also in Perugia. “We have launched a competition for the gene therapy of Lafora’s disease, giving away 100,000 euros – explain the spouses – with the aim of finding an innovative weapon to tackle this disease”. Researchers wishing to participate in the call must submit a research project, which includes gene therapy, on Lafora’s disease; project that must be validated by a health facility. A scientific commission will make the evaluation and then assign the funding, allocated equally between the researcher who will take care of it and the necessary material. “Projects from abroad are likely to compete. For this reason we have decided that, in the event that the winner is a foreigner, another 50 thousand euros will be assigned to the Italian laboratory that will collaborate with this project ». Six 100 thousand euros of the announcement have already been made available by the Baschirotto foundation, for these other 50 thousand an appeal is made to the generosity of some benefactor.
“It may seem like an ambitious initiative, out of reach – the Baschirotto couple still say – but we have seen over the years how ideas of this kind have borne fruit. In 1992 we were among the first to support the efficacy of gene therapy, and last year a company announced that it had produced a drug for a very rare neurogenerative disease, metachromatic leukodystrophy, developed thanks to the project we started.
We believed in gene therapy for the central nervous system, we persisted despite the skepticism of many, and the facts proved us right ».
“These two years of pandemic – they add – have macroscopically highlighted how important research in molecular and cell biology is for the treatment of rare but also very common forms, such as that caused by the Sars-Cov2 virus. During the pandemic, many visits, check-ups, surgeries, experimental or rehabilitative therapies were suspended or canceled, as well as conferences and awareness events. People with rare diseases have been doubly exposed to risk due to their real condition which, in most cases, is serious and disabling, as well as often without a definitive cure ». The Baschirotto foundation renews its determination to open a glimmer of hope, which can only come from scientific research, to win the battle against time and find therapy.
Giada project, ok from the dermopathic institute
On the eve of the International Day of Rare Diseases, good news arrives for the “Jade Project”, the initiative that supports research on the giant melanocytic congenital nevus affecting a little girl from Trissino. His parents started a fundraiser with the Baschirotto association to support a study conducted by researchers from the “Mauro Baschirotto” Bird Institute of rare diseases in Costzza. This research has now been approved by the ethics committee of the Immaculate Dermopathic Institute. of Rome, one of the world excellence in the dermatological field, which will therefore collaborate on the project. In the meantime, the Bird Institute is continuing its activities with schools, has recently hosted Boscardin students for an internship, and will shortly welcome a graduate student: there are already three university students who have developed their thesis in the costozza laboratories.