POLISH HUNTINGTON’S DISEASE ASSOCIATION
INTERNATIONAL VISEGRAD FUND 
Professor of genetics, the Head of Medical Genetics Department of Warsaw Medical University. Graduated Warsaw Medical Academy (1990) and got his PhD at the University of Oslo (1995). In his lab Prof Płoski has introduced next generation NGS for diagnostic and research use. The main current focus of his activity is whole exome sequencing on Illumina HiSeq 1500 platform for the diagnosis of human monogenic disorders as well as genomewide methylation analysis using NGS. Prof. Płoski is a specialist in laboratory medical genetics and he serves as an expert witness in human genetics at Regional Court of Justice in Warsaw. Prof Płoski has published > 100 research papers from the area of human genetics which have been cited > 2000 times, (prof Płoski Hirsh Index is 27). His current research concerns genetics of cardiomyopathies and diseases determining of early mortality in Polish population as well as studies of disease discordant monozygotic twins.
In Dec 2012 Department of Medical Genetics (Warsaw Medical University) has acquired Illumina HiSeq 1500 which allowed to establish whole exome sequencing (WES) as method for both research and diagnostic purposes. Since then we have performed > 1000 WES analyses, most of which aimed at finding diagnosis in patients suspected to suffer from rare neurological disorders with a genetic basis. Our results confirm that WES is the method of choice in all cases of rare neurologic disorders with unclear diagnosis allowing, in selected cases, to discover novel genetic diseases. We strongly believe, that collaboration within the Network will contribute to broadening of the knowledge on the genetic background of rare neurological disorders in our region.
