Postdoc Appreciation Week - Cardiff

Alvaro started his scientific career focusing on autophagy activation as a new treatment to remove huntingtin aggregates that drive Huntington’s disease pathogenesis and obtained a bachelor and master’s degree from Salamanca University. After that, he enrolled in Isabel Perez-Otano’s lab in 2015, where he continued to study Huntington’s disease. He helped developed a RNAi-Based silencing treatment against GluN3A, which prevents and reverses disease phenotypes in a mouse model. His further work on temporal and neuronal specificity of GluN3A mRNA expression will open new paths towards understanding neuronal circuits.

After finishing his PhD, Dr Alvaro joined Vincent Dion’s group in 2020 at Cardiff University where he is interested in the efficacy and safety of inducing contractions using the CRISPR/Cas9 nickase as a treatment in tandem repeat disorders.

Alzheimer's disease (AD) is a neurodegenerative disorder and the most common cause of dementia, however to date, there is no disease-modifying treatment available. All currently used AD models use single-gene mutations linked to early-onset AD, rather than attempting to model the much more common, but more complex late-onset AD. Genome-wide association studies have identified over 50 genetic mutations contributing to late-onset AD and the effect of these genes on an individual can be calculated. Samples from patients with a high genetic risk of AD and controls with low risk were identified and we generated stem cells from these individuals. We are now able to investigate the effect of AD on different brain cells using complex 2D and 3D models.