Dott. Maurizio Grassano
- Dottorato: 35° ciclo
- Dipartimento di Neuroscienze "Rita Levi Montalcini"
- Matricola: 722003
- ORCID: orcid.org/0000-0001-6714-6897
TutoreProf. Andrea Calvo
Prof. Adriano Chiò
Tesi di dottorato
Title: Implementation of an integrated framework to interpret genetic variants in Amyotrophic Lateral Sclerosis Supervisor of the following Thesis:
Title: Implementation of an integrated framework to interpret genetic variants in Amyotrophic Lateral Sclerosis
Supervisor of the following Thesis:
Attività di ricerca
A) Clinical interpretation of genetic variants in candidate ALS-related genes
In collaboration with Doctor B.J. Traynor and colleagues from the Laboratory of Neurogenetics, National Institute of Aging (Bethesda, MD), we developed a
bioinformatic pipeline to assess the mutational frequencies of ALS patients.
The first step of this analysis has been published (10.1212/WNL.0000000000011209). Building on this work, we are currently evaluating the use of whole-genome sequencing as a first-tier genetic test in ALS. We also estimated the true rate of mutated ALS cases in a large population-based cohort: this allowed us to assess the frequency of Italian ALS patients carrying mutations that should be reported in a clinical setting (causal mutations, mutations with prognostic significance and mutations therapeutically actionable).
B) Analysis of the role of mutations in candidate ALS-related genes in determining ALS
phenotype (including age of onset, clinical phenotype, cognitive impairment, and survival)
We recently demonstrated that variants in the GBA gene may contribute to determining ALS cognitive phenotype (doi:10.1136/jnnp-2020-322992): other potential genetic factors influencing the cognitive spectrum of ALS patients are currently under evaluation.