Akizu Laboratory

The exponential increase of genetic studies over the last few decades has uncovered numerous genetic variants associated to neurological disorders. Often, these variants are widely expressed in every tissue, and yet they exclusively disrupt the development, function, or viability of specific neural populations. In fact, specific neuronal vulnerability is surprisingly common in many neurological diseases.

But why are some neurons vulnerable to disease stimuli and why are others resistant? What determines the response of each neural type to diverse physiological and pathological conditions? And how does each neural type acquire and maintain specialized functions? These are the central questions that guide research in the Akizu Lab, which works toward a better understanding of human brain complexity in health and disease.

Following an inside-out approach, the Akizu Lab studies pathogenic mechanisms caused by particular genetic mutations and then uncovers common features that provide vulnerability to neuronal types affected by diverse genetic mutations.

The team's current focus centers on childhood neurodegenerative disorders of the cerebellum and motoneurons associated to perturbed protein synthesis and degradation events. These are often caused by mutations in widely expressed genes and yet mostly affect specific types of neurons.