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Dott. Maurizio Grassano

Tesi di dottorato

Title: Implementation of an integrated framework to interpret genetic variants in Amyotrophic Lateral Sclerosis

 

Supervisor of the following Thesis:

  • Phenotype analysis of FUS mutations in an Italian Cohort (Laurea Magistrale in Medicina e Chirurgia, Orbassano)
  • Analysis of oligogenic architecture in Amyotrophic Lateral Sclerosis: insights from two Italian cohorts (Laurea Magistrale in Medicina e Chirurgia, Torino)
  • Rare variants in the genetic background modulate ALS phenotypes (Laurea Magistrale in Medicina e Chirurgia, Orbassano)
  • Gene – environment interaction in amyotrophic lateral sclerosis: paraoxonases and potential exposure to xenobiotics (Laurea Magistrale in Medicina e Chirurgia, Torino)
  • Interaction between genetics and smoking habit in ALS: influence on phenotype and survival (Laurea Magistrale in Medicina e Chirurgia, Orbassano)
  • From genetic pathways to phenotype and outcome in Amyotrophic Lateral Sclerosis, (Laurea Magistrale in Biotecnologie, Torino)

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.

Ultimo aggiornamento: 18/03/2022 15:20
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