La Marató awards funding to a rare diseases project at IRB Barcelona

Cohen Syndrome is a rare genetic disorder characterized by multiple health problems. Affected children may suffer from developmental delay, intellectual disability, weak muscle tone, reduction in the number of certain blood cells, which increases the risk of infections, and loss of vision, which becomes worse with age and can lead to blindness.

Yesterday, the Fundació La Marató de TV3 announced the 41 research projects to receive funding from the 2019 La Marató telethon devoted to Rare Diseases. In total, 226 projects have been appraised on the basis of their excellence, methodology and relevance in a peer-review process managed by the Quality and Health Assessment Agency of Catalonia.

One of the funded projects was proposed by Jens Lüders, head of IRB Barcelona’s Microtubule Organization lab, and it involves two additional partners, Dr. Dunja Lukovic (Centro de Investigación Príncipe Felipe, Valencia, Spain) and Prof. Dr. Melanie Philipp (University of Tübingen, Germany). Together, they will use cells donated by patients, and also organoids and zebrafish to elucidate the underlying mechanisms that lead to the health problems in Cohen Syndrome.

The Golgi apparatus and microtubules

Cohen Syndrome patients carry mutations in the VPS13B gene. However, the exact function of VPS13B is unknown and no treatment is available. This gene plays a role in the structural integrity of a cellular organelle, the Golgi apparatus. This organelle helps in the assembly and organisation of the microtubule cytoskeleton. In turn, the microtubule cytoskeleton is involved in Golgi-mediated intracellular transport of lipids and proteins. Researchers at the Microtubule Organization lab hypothesise that this crosstalk between the Golgi apparatus and the microtubule cytoskeleton may be defective in Cohen Syndrome patients.

“Our search for an explanation of how mutations in the VPS13B gene cause health problems in Cohen Syndrome patients will provide greater knowledge of this rare disease—knowledge that is crucial to find future treatments,” Lüders explains.