Sant Pau researchers design a mass sequencing panel for undiagnosed patients with neuromuscular diseases

by Hospital de la Santa Creu i Sant Pau

​Thanks to the work coordinated by Dra. Maria Pía Gallano, director of the Genetic Diseases Research Group at the Sant Pau Research Institute, in which researchers from various centers also affilia...

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Dr. Ceciclia Jiménez-Mallebrera: 'The discovery of GDF15 overexpression in patients with mitochondrial disease opened a door towards an improvement in their diagnosis'

by Fundació Sant Joan de Déu

Currently we work, basically, in two big areas: congenital muscular dystrophies (CMD) and mitochondrial diseases. Children with CMD are born with muscular weakness or they develop it during the first ...

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