• 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.
• SPECIFIC AIMS:
  • 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
[Marco's home page]