Proceedings of the 2nd BEAT-PCD Conference and 3rd PCD training School: part 2

Primary ciliary dyskinesia is a rare, autosomal recessive genetic based disease causing functional and/or structural defects of cilia. However, there are little information about the genetic basis of this disease. By this time, we know that, mutations on the DNAI1 and DNA5H genes are responsible for encoding of dynein proteins of cilia, causing this disorder. Discrimination of the PCD from other diseases like Cystic fibrosis is quite problematic. Discrimination and treatment will be easier if the genetic basis of the PCD is known. In the proposed work, we plan to carry out whole genome exome sequencing on 3 families with PCD siblings. Each these families have healthy parents and two sick children. As a result of exome sequencing, we will able to identify common SNP’s and/or affected common genes related with PCD. Then, the data obtained from exome sequencing will be used as the input to PANOGA to identify affected pathways. Thus, we will be able to study PCD aetiology via affected pathways. Eventually, we aim to provide a novel marker for diagnosis of PCD.