Ana Topf

Latin-SEQ

Latin-SEQ is an international multi-centre consortium focused on rare neuromuscular diseases in Latin America. The project is structured around three core pillars: a diagnostic branch providing genetic answers to undiagnosed patients through a phenotype-driven pipeline; a research branch focused on genotype–phenotype correlations and novel gene discovery; and a translational development branch that builds locally owned tools, training, and infrastructure. The initiative aims not only to improve diagnosis, but to establish sustainable scientific capacity through equitable collaboration and federated analysis.