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Peter-Taschner

Peter Taschner studied biology and biochemistry at Leiden University. He received his PhD in Molecular Cytology from the University of Amsterdam (Nederland). After a post-doctoral position in the Department of Biochemistry at Leiden University, he moved to the Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, Nederland. He has been involved in the identification of the genes for juvenile neuronal ceroid lipofuscinosis (CLN3) and hereditary paraganglioma (SDHD). He has developed worm and mouse models to study the molecular basis of these disorders and is one of the curators of the TCA cycle gene mutation database. As a staff scientist he headed the group developing the Leiden Open Variation Database package LOVD (http://www.lovd.nl) and the Mutalyzer sequence variation nomenclature checker (https://mutalyzer.nl). He has an interest in developing efficient and unambiguous descriptions of sequence variants and in interpretation and prediction of their functional effects.

In 2015, Peter started as Professor Genome-based Health at Generade the Center of Expertise Genomics of University of Applied Sciences Leiden. Generade is a collaboration between partners University of Applied Sciences Leiden, Leiden University Medical Center, University Leiden, National History Museum Naturalis and biotech company Baseclear. Peter’s research focuses on improving the interpretation of sequence variants and application of genomics  technology in relation to personal health.

Peter Taschner serves also as the Chair of Gene/Disease Specific Database Advisory Council, the first representative of the Dutch HVP country node and a board member of the Human Genome Variation Society.