Active Project: EXOMEFALS
EXOMEFALS
Identification of candidate disease genes in FALS using a targeted exon capture and resequencing approach
The Project
The identification of genetic causes of familial amyotrophic lateral sclerosis (familial ALS, FALS) has greatly contributed in recent years to the understanding of the pathogenesis of ALS in general. Unfortunately, only one third of the genetic variability in FALS has been explained so far, mainly because of the intrinsic difficulties in finding informative pedigrees. The recent development of exon capture and short-read sequencing technologies now allow screening large cohorts for rare variants at a genome-wide scale, in an economically feasible way. Published data have demonstrated how this approach can successfully be used to identify novel genes associated to Mendelian diseases. In this project, we propose to adopt the exon capture and short-read sequencing approach to ~10 well-characterized small FALS pedigrees. We will describe how we plan to isolate candidate ALS-associated variants through a bioinformatical analysis and how we intend to validate our findings in a larger FALS cohort. We are confident that the proposed project will lead to the discovery of one or more FALS-related novel genes.
The Research Team
Principal Investigator:
Vincenzo Silani
Department of Neurology,
University of Milan Medical School
IRCCS Istituto Auxologico Italiano
Curriculum and References
Partner 1:
Cinzia Gellera
Fondazione IRCCS – Istituto Neurologico Carlo Besta
Curriculum and References
Partner 2:
John Landers
Department of Neurology
University of Massachusetts Medical School
Curriculum and References
Project Progress
Year 1
Year 2
