|Last name||Recasens Alvarez|
disease modelling, ribosomopathies, proteinopathies, autophagy, protein translation, developmental biology, biomedicine, genetics, biochemistry, molecular biology
I am a postdoctoral research scientist currently working at the Francis Crick Institute in London. I did my master and PhD in Barcelona, at the institute for Research in Biomedicine (IRB) where I studied how cell communication regulates cell proliferation and survival during development. As a postdoc, I am currently investigating the links between protein translation and human disease, in particular how mutations in genes encoding ribosomal components lead to cellular stress and cell death, a condition associated with a class of disease collectively known as ribosomopathies. During the course of my research I developed in vivo models of human ribosomopathies and found that mutations in ribosomal proteins not only lead to a global reduction in protein translation rates, as reasonably expected, but also to the build up of protein aggregates, defects in autophagy and a general cellular stress signature that leads to apoptosis if unresolved.