A genomic screening platform highlighting differences and overlaps in neurodegenerative diseases

BACKGROUND: Neurodegenerative diseases (NDs) are complex pathological conditions caused by the interaction of genetic and nongenetic factors, and resulting in the progressive impairment of different cell populations of nervous system. In addition, a supplementary grade of complexity arises when neurodegenerative phenotypes overlap. To deal with this complexity, genomic technologies can be used to the discovery of pathogenic mechanisms, stratification of patients into disease subtypes, enhancement of the diagnostic power, and identification of new drug targets. AIM: To investigate the genetic characterization of copy number variants (CNVs) at genomic level in a wide gene panel embracing disease-causing genes, known and putative disease modifiers related to different NDs, we designed, developed and validated two version of a customized exon-centric Comparative Genomic Hybridization array (aCGH) platform named NeuroArray v.1 and v2.