Spinal Muscular Atrophy

20 Outubro 2021, 09:30 • Margarida Henriques da Gama Carvalho

Overview of Spinal Muscular Atrophy (SMA) – from disease genetics and mechanisms to therapeutic developments

SMA as an unusual perspective on Neurodegeneration – from loss-of-function to absence of aggregation phenotypes

Costs and values of gene therapy approaches for rare disorders 

Making sense of multiple disease genes – common phenotypes – diseases as molecular network disfunctions