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PadovaMarch 10, 2023 – UILDM – Italian Union for the Fight against Muscular Dystrophy, as part of the international research project Epithe4FSHDorganized two live webinars dedicated to the research object of the project itself, with the aim of telling what is expected worldwide on facioscapulohumeral muscular dystrophy and what is the state of the art on the treatment and management of patients.
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The first webinar, dedicated to patients, will take place on Wednesday 5 April at 5 pm; the second, dedicated to healthcare professionals, will take place on Wednesday 19 April at 5 pm. Two moments dedicated to two different audiences because the project’s objective is also twofold: on the one hand, research, on the other, the construction of an ever stronger culture on FSHD, both for patients and their families and for clinicians.
The role of UILDM within the project concerns precisely the promotion of research results and greater knowledge on muscular dystrophy FSHD. For this reason, a website dedicated to the EpiThe4FSHD project has been created (epithe4fshd.org) and started a collaboration with the UILDM FHSD Patient Group. Thanks to the direct involvement of the beneficiaries, UILDM puts the person at the center of its action as always, thus increasing the awareness and independence of the patients, the first actors of an increasingly participatory communication.
Muscular dystrophy FSHD is one of the most common neuromuscular diseases. Unfortunately there is no cure or therapeutic treatment for FSHD patients – explains Davide Gabellini, coordinator of the EpiThe4FSHD project – The disease is caused by out-of-control expression of the DUX4 protein, which is toxic to muscle cells. Thanks to the support of the European Joint Program on Rare Diseases and the contribution of European and North American partners, the EpiThe4FSHD project plans to test the safety and efficacy of molecules that inhibit the production of DUX4 – explains Davide Gabellini, project coordinator – . In addition to the scientific component, an equally important part of the project plans to provide information and awareness on this important disease thanks to the fundamental contribution of UILDM, partner of the EpiThe4FSHD project”.
“This project represents a further step forward both for patients and for the world of clinicians studying muscular dystrophy FSHD – explains Marco Rasconi, National President of UILDM – Involving patients in the process of communication and awareness of the disease that they must first manage means responding to them primarily as people, an action that UILDM has always been committed to. As I often say, care and taking care of are cornerstones that we must never stop paying attention to. On the one hand, research continues tirelessly to seek the cure, but the commitment must also feed the quality of daily life and this passes through training and awareness”.
The EpiThe4FSHD project
The three-year research project “Safety and efficacy of a possible therapeutic approach for FSHD dystrophy”, classified with the acronym “EpiThe4FSHD”, started in September 2021. Scientific research focuses on the study of the mechanisms that control the expression of DUX4 to inhibit it. The “Gene Expression and Muscular Dystrophy” research group of the San Raffaele Institute in Milan, leader of the project, coordinated by Dr. Davide Gabellini, conducted studies that allowed to identify a factor that is required for the expression of DUX4 in cells from patients with FSHD. Since there are already pharmacological and genetic inhibitors of this factor, the discovery has hinted at the possibility of a future therapeutic use.
EpiThe4FSHD is an international project and sees the participation of several partners in addition to the lead partner: Ontario Institute for Cancer Researc (OICR); Neurology Unit, Pisa University Hospital – Department of Experimental Medicine and Clinic, University of Pisa; Koc University Hospital, Department of Medical Genetics, Genetic Diseases Evaluation Center; Biomedical Center, LMU Munich. It is funded by EJP RD – European Joint Program on Rare Diseases.
Info and registration
To participate you need to register by clicking on the following links. After registration you will receive the connection link.
- Webinar registration April 5 at 17 (patients)
- Webinar registration April 19 at 5 pm (health professions)
Alternatively, it is possible to request it by email (by writing to direzionenazionale@uildm.it), via the website epithe4fshd.org or by clicking on the QR Codes in the attached poster.
sponsorship
The webinars enjoy the patronage of: OMAR – Observatory of Rare Diseases; Rare Disease Alliance; Simfer – Italian Society of Physical Medicine and Rehabilitation; FSHD Society; World FSHD Alliance; NeMO Clinical Centers; SIF – Italian Society of Physiotherapy; AIM – Italian Association of Myology.
UILDM extension was founded in 1961 with the aim of promoting the social inclusion of people with disabilities, through the removal of all types of barriers, and to support scientific research and information on dystrophies and other neuromuscular diseases. It has a widespread presence on the territory thanks to the 66 local Sections, the 3,000 volunteers and the 10,000 members, who are a point of reference for around 30,000 people. UILDM carries out important work in the social field and in wide-ranging medical-rehabilitative assistance, also managing outpatient rehabilitation, prevention and research centres, in close collaboration with university and social-health structures.
UILDM press office
Alessandra Piva and Chiara Santato
uildmcomunicazione@uildm.it
049/8021001 int. 2
