Unique genome variants in congenital neurodevelopmental disorders: origin, genomic mechanisms, functional and clinical consequences

• Project promoter: Vilnius university
• Project partner:  University of Laussane
• Implementation period: 01.11.2012–31.03 2016;
• Budget: 2.488.939 LTL

Short project description

The aim of the Project: Intellectual disability (ID) is one of the main disabling conditions in present day environment, and is thought to affect 1–3% of the population. It is a highly heterogeneous disorder, with the majority of cases having genetic etiology, which remain unexplained in 60 % of these cases. The main aims of the proposed project are to detect novel genes mutations that cause ID, to determine their clinical significance in ID etiology and train a new generation of scientists in the process. The project will use the most advanced techniques – will perform high resolution array CGH analysis in trios searching for novel chromosomal alterations; will also seek to identify candidate genes of ID by performing whole-exome sequencing in members of families with two affected sibs and a subset of trios. The advance that the proposed project will bring the discovering of the functional effect of the identified candidate genes using functional genomics approaches.