The idea of the proposed project is to detect and validate novel genetic causes of intellectual disability and/ or congenital anomalies. During the project the young researchers with experience in different fields of genetics, including clinical genetics, molecular cytogenetics, molecular genetics, bioinformatics and functional genomics, will focus on clinical, molecular and functional characterization of identified novel DNA sequence and copy number variants (CNVs) and this will contribute to the expansion of the scientific knowledge and functional testing capabilities in the current research area. The proposed designe of the work will allow the effective and rational use of the advanced and high throughput techniques for this research project.

The main objective of the study is to detect and validate novel genetic causes of intellectual disability and/or congenital anomalies through identification of novel DNA sequence and copy number variants and their clinical, molecular and functional characterization.

The tasks:

  1. Enrolment of individuals with well-defined clinical features and collection of samples for genetic testing and functional analysis.
  2. Detection of novel genomic variants through next generation sequencing.
  3. Application of functional genomics approaches in order to confirm the candidate genes for neurodevelopmental disorders or congenital anomalies and to determine their expression patterns, functions and interactions of the encoded proteins.