The May issue of the American Society for Biochemistry and Molecular Biology (ASBMB) journal includes a feature article about the international project on Lafora disease, which involves Joan Guinovart’s group at IRB Barcelona (see here). The US organisation Chelsea’s Hope, a charity formed by families affected by this disease, promoted this international collaboration.
Written by Kim Rice and Matthew S. Gentry, both related to the disease in several ways, the article reveals that serendipity and basic biochemistry have accelerated progress towards a cure for this rare and fatal condition.
Read the article: Passionate parents catalyze research
It is estimated that around 400,000 people in Catalonia have a rare disease. In Spain this figure reaches 3 million and in Europe 30 million. In spite of the number of people affected, rare diseases have little visibility. Although promising breakthroughs have been made, these diseases are usually chronic, weakening, and multisystem disorders.
A study published in Cell Metabolism by IRB Barcelona scientists turns long-standing assumptions about glycogen biology on their head.
The results may explain the muscular defects of patients with glycogen storage disease XV.
The medical newspaper “Correo Farmacéutico” has echoed a recently launched international consortium that seeks to find a treatment for Lafora disease—the most severe type of epilepsy in humans.
Scientists from the US, Canada and Spain, among them Joan Guinovart from IRB Barcelona, are poised to perform joint research with the aim to find a treatment for Lafora disease.
