Research Award

Liana Veneziano, PhD

National Council of Research, Rome, Italy
Looking for gross rearrangements of CACNA1A gene in Episodic Ataxia type 2 (EA2) patients by Comparative Genomic Hybridization (CGH) arrays

This project focuses on the study of a rare disorder, Episodic Ataxia type 2 (EA2) due to mutations of CACNA1A gene encoding for the core protein of one type of calcium channels particularly abundant in brain. The study is aimed at increasing the rate of EA2 molecular diagnoses. EA2 is due to protein changes decreasing calcium influx into the cell. Many problems remain unsolved, among which the low rate of EA patients in whom a molecular diagnosis is attained (20-30%) is seriously limiting the chance to study clinical and therapeutic aspects in appropriately sized group of patients. The present project proposes to verify if gene rearrangements, not detectable with the routine methods, can increase the detection rate. This goal will be reached by using a new methodology, Comparative Genomic Hybridization (CGH) arrays, that measures DNA copy number variations at multiple loci simultaneously, which can be used for a screening of CACNA1A gene rearrangement in a sample of 40 EA patients in which gene point mutations were excluded. The accomplishment of this task will increase the number of molecularly diagnosed patients undergoing clinical trials for new therapies.