The UB hosts a symposium on Duchenne muscular dystrophy, a minority degenerative disease
Duchenne muscular dystrophy (DMD) is a minority disease of genetic origin that causes progressive muscle weakness and atrophy, whereby the muscles of those affected gradually weaken until they lose all their functionality. It is caused by a mutation in the gene encoding dystrophin, an essential protein for proper muscle function. This pathology greatly limits mobility and life expectancy. It affects 1 in 5,000 children worldwide and about 20,000 new cases are diagnosed each year.
Duchenne muscular dystrophy (DMD) is a minority disease of genetic origin that causes progressive muscle weakness and atrophy, whereby the muscles of those affected gradually weaken until they lose all their functionality. It is caused by a mutation in the gene encoding dystrophin, an essential protein for proper muscle function. This pathology greatly limits mobility and life expectancy. It affects 1 in 5,000 children worldwide and about 20,000 new cases are diagnosed each year.
A unique scientific event in Spain
Next Thursday, 7 September, coinciding with World Duchenne Awareness Day, the UB Faculty of Biology will host the eighth conference to promote knowledge transfer on Duchenne.
This scientific symposium —the only to take place in Spain on that day— is driven by the UB Chair on Rare Diseases and the association Duchenne Parent Project Spain. Created in 2022 with the collaboration of Pfizer, this chair is led by Professor Marisol Montolio (scientific director), from the Department of Cell Biology, Physiology and Immunology of the Faculty of Biology.
The conference will be opened by Silvia Ávila, president of Duchenne Parent Project Spain. The sessions will include the participation of more than forty scientists from around Spain, in order to set communication and collaboration ways among the scientific community that studies Duchenne and Becker diseases in Spain.
From gene therapy to chips
The programme will address, among others, the most important advances in Duchenne and the brain achieved through the Brain Involvement iN Dystrophinopathies (BIND) project, the first large-scale international initiative to study the role of dystrophin in the brain in Duchenne and Becker muscular dystrophies (DMD/BMD).
New research tools in DMD/DMB will also be discussed, including the development of a "muscle-on-a-chip" device to study Duchenne muscular dystrophy and dystrophin or utrophin augmentation therapies. Therapies and the review of antifibrotic and pro-regenerative compounds complete the scientific programme of the day.
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