Project Acronym: RepeatALS.
Project Title: Genome-wide analysis of DNA tandem repeats in ALS: the role of Repeatome
Funding: Arisla - Fondazione Italiana di Ricerca per la Sclerosi Laterale Amiotrofica
Partners: CNR-IIT (Pisa), CNR-ITB (Milano), Università del Piemonte Orientale.
Project Coordinator: Prof. Sandra D’Alfonso (Università del Piemonte Orientale)
Duration: 2 years (2014-2015).
Funding (total): 170,000 Euro
AIM OF THE PROJECT:
To perform a systematic analysis of the involvement of Tandem Repeats Polymorphisms (TRP)
in the pathogenesis of Amyotrophic lateral sclerosis (ALS).
The project will be focused mainly on sporadic cases with
the aim of contributing to understand the etiology also of sporadic ALS
that remains elusive in at least 90% of the cases.
Performing a comprehensive genome-wide study of TRPs in all gene regions.
Different tools and approaches will be utilized in order identify the largest
number of polymorphic TRs.
Creating a “Repeatome” kit for the analysis of TRPs.
A targeted re-sequencing approach will be performed.
Considering the complexity of the analysis, we will initially focus
our analysis on all identified TRPs localized in the genomic regions
with a potentially higher causal impact on disease, namely the genes
(exons, introns, UTRs) and their 5’ flanking regions
Identifying expanded TRPs implicated in ALS pathogenesis.
Validating the expanded TRPs identified with the “Repeatome”
kit by means of more traditional techniques
Replicating the potential involvement in ALS pathogenesis
of validated expanded TRPs in larger ALS cohorts
Last update: November 4th, 2014
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