Ana Buj Bello, winner of the Léon Baratz Prize, Docteur Darolles for her research on a gene therapy to cure myotubular myopathy

Congratulations to Ana Buj Bello, Director of Research at Inserm and Head of the Neuromuscular Diseases and Gene Therapy team at Genethon, winner of the Léon Baratz, Docteur Darolles prize awarded on Tuesday 17 December by the French Academy of Medicine for her work on the development of a gene therapy to cure myotubular myopathy.

Myotubular myopathy is an X-linked genetic disease affecting 1 in 50,000 newborn boys. It is caused by mutations in the MTM1 gene encoding myotubularin, a protein involved in muscle cell function. It is characterized by extreme muscle weakness and severe respiratory insufficiency. 50% of affected children die before the age of 18 months and 75% before the age of 10.

At Genethon, Ana and her team designed this gene therapy, which combines an adeno-associated viral vector (AAV8) and the MTM1 gene. This gene therapy has considerably improved the lives of young patients treated as part of an international trial.

Discover the exceptional progress made by Jules, who benefited from this treatment. (in French)

“It’s a huge honour to receive this award, which recognizes years of research and a collective effort. I would like to thank my team, everyone involved and the AFM-Téléthon for the progress made on this project. The results obtained in both pre-clinical and clinical trials show that gene therapy represents a promising approach that offers hope for all the children suffering from this disease”, Ana emphasizes

The Léon Baratz, Docteur Darolles prize is awarded to researchers who have published particularly interesting scientific results or works.