Lafora Disease

Lafora Disease (LD) is a severe and rare form of autosomal recessive inherited progressive myoclonic epilepsy. It mainly affects teenagers. The life expectancy of those affected is 10 years from the initial onset of symptoms.
It is caused by mutations of EPM2A or NHLRC1 which cause an alteration in the production of laforin and malin, respectively. The alteration of these two proteins leads to the formation of aggregates called Lafora bodies.
The disease presents with epileptic seizures at rest or during activity, visual hallucinations and progressive neurological deterioration.
At the moment there is no definitive therapy and to defeat the disease you have to race against time, looking for funds to finance and better understand the pathogenesis of the disease and to find a cure.
To promote research into this disease, the “Mauro Baschirotto” Rare Diseases Association has set itself the goal of promoting and launching the special GENE THERAPY PROJECT FOR LAFORA DISEASE.
For the occasion, the Baschirotto Association, in collaboration with Perugia Officina Scienza Tecnologia (POST) and with the Perugia Hospital, organized an international Expert Meeting dedicated to Lafora’s disease on 4 and 5 October 2021 in Perugia and Assisi, which was attended by the world’s leading experts, including Berge Minassian and Mattew Gentry.

For the occasion, the Baschirotto Association, in collaboration with Perugia Officina Scienza Tecnologia (POST) and with the Perugia Hospital, organized an international Expert Meeting dedicated to Lafora’s disease on 4 and 5 October 2021 in Perugia and Assisi, which was attended by the world’s leading experts, including Berge Minassian and Mattew Gentry.

The “Mauro Baschirotto” Rare Diseases Association has also announced the 11th edition of the International Gene Therapy Award, a competition designed to finance the best research project concerning the Gene Therapy of Lafora’s disease.

XI International Award on Gene Therapy
XI International Award on Gene Therapy and Advanced Therapies

Donations

Help us support research by donating 5 per thousand or through a donation to:

Banca di Verona e Vicenza
Iban code: IT 70Q 08807 11800 000000070000
Swift/Bic code: ICRAITRRBSG
Reason: Contributo per Ricerca Fibromatosi Desmoide

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For further informations
Phone +39 0444 555557 e +39 0444 555034
[email protected]

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