The Mauro Baschirotto Association for Rare Diseases carries out its activities both nationally and internationally. Hence the need to rethink its organizational structure, taking into account the growing needs associated with new collaborative projects with healthcare facilities in other regional contexts.
Of particular importance are those recently launched with the Umbrian Healthcare facilities (specifically with the Santa Maria della Misericordia Hospital in Perugia, in particular with the CRR of medical genetics), which will allow a better approach to the numerous cases of Rare Diseases in the area of Central Italy.
Located in Terni, this Umbrian rib, thanks to the free facility, gives the opportunity to be closer to rare patients in Central Italy.
The objectives of the Umbrian Section are those established by the articles of association in terms of assistance, information and training for Rare Diseases and support for Scientific Research. In particular, it will look after relations with patients and their families, with health facilities, as well as develop awareness-raising activities on the issue of Rare Diseases in the area.
NEWSPAPERS TALKING ABOUT US:
Malattie rare e adolescenti, una raccolta fondi per la terapia genica contro la malattia di Lafora (perugiatoday.it)
25th May, 2021 – PERUGIA TODAY
Rare diseases and adolescents, a fundraiser for gene therapy against Lafora’s disease
The initiative is promoted by the “Mauro Baschirotto” association, Umbria section. Here’s how to contribute
Lafora’s disease (LD) is a severe and rare form of hereditary progressive myoclonic epilepsy, which occurs in adolescence. The disease presents with seizures, visual hallucinations and progressive neurological deterioration.
There is no definitive therapy at the moment and to defeat the disease you have to race against time, looking for funds to finance better understanding the pathogenesis of the disease and to find a cure. In the United States, Professor Berge Minassian is studying a drug therapy, currently being tested only on mice, which offers hope of recovery. Research and study, which can only be upgraded with donations, are the only weapons to be able to stop the disease.
The rare disease association “Mauro Baschirotto”, Umbria section, launched the fundraising for the “Lafora gene therapy” project, in collaboration with the Bird rare disease institute (accredited for the diagnostic activity agreed with the Health Service National Institute for Medical Genetics).
The medical genetics laboratory carries out genetic investigations, research for possible clinical applications of innovative treatments, outpatient and day rehabilitation, multi-specialist visits in the fields of physiatry, neurology, medical genetics, pediatrics and other specialties, information and training for doctors, health professionals and assistance to patients and families.
Depending on the needs and the various pathologies, a team of medical specialists, physiotherapists and other professionals work for the application of rehabilitation protocols to individuals and groups of patients suffering from the same pathology.
Donations for the “Lafora gene therapy project… For Federico and all the others” can be made by bank transfer to IT16N0880711800018008047812; IT10P0760111800000017000365; IT19F0200814411000104535697 with reason (Motiv) Lafora project.
Rare diseases are a critical point for the national health system, as if taken individually they are indeed rare, but as a whole they represent a real emergency and a real socio-health challenge. In Umbria there are almost 5,000 patients affected by rare diseases, with a frequency of about 1 in 220 inhabitants.
On February 28, 2020, the Regional Reference Center for Medical Genetics of the Perugia hospital was awarded a grant from the Ministry of Health for research aimed at the etiological diagnosis, clinical management and targeted therapy of rare diseases due to intellectual and sensory disabilities.
The project will have a duration of 36 months, with a total funding of 130 thousand euros. The scholarship rewarded the results of a young biologist, Valentina Imperatore, who successfully dedicated herself to research in the field of genetic diseases with the support of the rare disease association “Mauro Baschirotto”.
Perugia 1416, un’edizione 2021 ancora “ibrida” ma piena di significato Eventi a Perugia (perugiatoday.it)
31st May 2021 – PERUGIA TODAY
Perugia 1416, an edition between real and web: it is the “MedievalWeb”. Cuisine, short films, history and docufilms on Braccio
Perugia 1416 will still be a “hybrid” edition scheduled from 3 to 6 June, which does not, however, renounce to be there for all the citizens of Perugia, both with a few moments in attendance – strictly in safety – and with many online appointments. Not surprisingly, the subtitle of the 2021 edition is “MedievalWeb”.
In the press conference to present the program of the challenge between the ancient districts of the city of Perugia, what emerged in the words of President Teresa Severini, is the will to be present for all citizens, even for children, to whom the medieval tales by the storyteller actor Mirko Revoyera; but there will also be medieval recipes complete with show cooking by chef Giovanni da Montemalbe, as well as the medieval music concert of the Trobadores and the photographic exhibition Altera Effigies, which immortalizes the “behind the scenes” of the districts in costume; exhibition visible both live and online and with a lot of sale of the images on display, to raise funds for charity. And the challenge between the districts, the beating heart of the Perugia 1416 event? It will be a cinematic challenge, featuring short films, entrusted to the care of the artistic coordinator of the edition, Stefano Venarucci.
“The pandemic was actually an opportunity – said Venarucci – because I noticed a commitment and a will among the inhabitants of the neighborhoods, everyone organized themselves and committed resources to shoot short films”. The viewing of the films will take place on June 5 at 5.30 pm in the Sala dei Notari (and of course simultaneously in streaming, on the various social channels linked to the event), when the winners will be announced by the jury’s verdict. Even the solemn delivery of the city keys to Braccio Fortebracci, in the splendid setting of the Sala dei Notari of Palazzo dei Priori, will be usable in the presence of limited seats.
However, the moment of the historical re-enactment will not be missing, but the Palio, as well as last year, will not be disputed: “the districts – explains Teresa Severini – have decided, by mutual agreement, not to organize the challenge games, even behind closed doors. , nor postponing them to September, nor the procession or the representation in tableau vivant of the last edition on the stairs of the Palazzo dei Priori, given the coincidence of the date with Corpus Domini. A choice that led, by mutual agreement, to the decision to donate the symbolic drape, designed by the student of the Academy of Fine Arts of Perugia Agnese Pierotti, as in 2020: this year, instead of the City of Perugia, it will be given to another recipient, which will be unveiled on Sunday 6 when we meet at the interior of the Sala dei Notari. It will therefore be done in a symbolic way, but with a meaning of closeness due to the difficulties created by the persistence of the pandemic “.
Everything will then be crowned, in September, by the second edition of the docufilm “Braccio 3.0”, of which a preview will be broadcast on the days of the festival.
An experience of shared sociability
As emerged at the conference from the words of the city councilor Roberta Ricci, present together with the councilor Leonardo Varasano, in the emergency in which we still find ourselves the preparatory work of Perugia 1416 was also a precious opportunity for socializing, albeit in safety and at a distance, for the many fragile people touched by the pandemic, in particular the Aziani. Many of the promoters and protagonists of the association who did their utmost in the hardest months of the lockdown to “network” around these most disadvantaged people, extending the meaning of the event to something deeper and more supportive.
Perugia 1416, la “golosa disfida” va ad Elena Bellaccini con la sua torta “Le chiavi di Braccio” (perugiatoday.it)
4th June, 2021 – PERUGIA TODAY
Perugia 1416, the “greedy challenge” goes to Elena Bellaccini with her cake “The keys of Braccio”
She got the better of the other two finalist competitors: Priscilla Zucchini with the sweet “Turtam Rosarum”, who came in second place, and Claudia Ciani with two proposals: “Meridiana” and “Mandorle in fiore”
Elena Bellaccini won with her cake “The key of the arm” the fourth edition of the gastronomic competition “The greedy challenge”, an initiative, organized by the Perugia 1416 association in collaboration with the University of flavors-international training and culture center of feeding, was held between the tables of the Bistrot in Piazza Matteotti.
Elena Bellaccini preceded the other two finalists: Priscilla Zucchini with the sweet “Turtam Rosarum”, who came in second place, and Claudia Ciani with two proposals: “Meridiana” and “Mandorle in fiore”. All, however, highly appreciated by the jury both for the taste and the appropriateness of the interpretation of the cuisine of the time.
The jurors, experts in the gastronomic sector, were Maurizio Beccafichi, marketing and development director of Unisapori, Marilena Badolato, academic of the Italian Academy of Cuisine, referent for the Territorial Studies Center, and Miria Onesta foodblogger of “2 friends in the kitchen”. The three evaluated the cakes on the basis of seven criteria: the historical adherence in the use of the ingredients, the presentation of the product, the tradition and innovation, the actualization, the use and marketing, the food-cost, the harmonic tasting and the intensity of perception.
In thanking the participants, the president of the association, Teresa Severini, expressed great appreciation for all the elaborate cakes, particularly interesting also from a decorative point of view, with reference to the districts of the city. The goal of the initiative, Severini stressed, is to stimulate people’s curiosity in experimenting with dishes with exclusively typical ingredients of the 15th century, in deepening the techniques and ingredients of the time, to rediscover their history, their roots.
The winner was awarded with a hand-decorated ceramic plate by the artist Maria Antonietta Taticchi. All competitors received a voucher for a free “Cuochi a puntino” gastronomy course, kindly granted by Unisapori.
Also online, it will also be possible to see the photographic exhibition “Altera Effigies”, III edition, accompanied by some costumes from the historical re-enactment, inaugurated in the morning. Set up in what will be the new headquarters of the Perugia1416 Association, due to security measures it will be open by appointment only, but visible online. The photographs on display will later be sold at auction and the proceeds donated to the “Mauro Baschirotto” association, Umbria section, to raise funds for research into gene therapy against Lafora’s disease.
Tomorrow’s program, June 5th.
- 12.00: Medieval show-cooking with Giovanni da Montemalbe: online presentation (*) of the ancient Perugian recipe: L’ORO DI PERUGIA: LASCHAE FRICTE, ALEATA SAUCE.
- 5.30 pm screening in the Sala dei Notari of the short films competing for the challenge between the districts and proclamation of the winner by verdict of the jury.
Due to the quota constraint the available places – after accreditation – are 75. Upon reaching these the doors will be closed. To allow those excluded to participate in any case, the event will be resumed in streaming and broadcast online.