Hans Scheffer

Hans Scheffer is head of the Division Genome Diagnostics, one of the three Divisions within the Dept. of Human Genetics. The laboratory currently has over 120 co-workers. The Division Genome Diagnostics consists of 6 working groups, i.e. (1) oncogenetics, (2) neurological disorders and mental retardation, (3) neurodegenerative and neuromuscular disorders, (4) hereditary disorders including blindness, deafness, kidney diseases and endocrine diseases, (5) a technical and automation group (including the UMC-wide sequencing facility), and (6) a research working group. HS is active in the further development of good laboratory practice (GLP) and the ongoing implementation of quality management in DNA service labs in general, and the local service group in particular. This led to CCKL accreditation in compliance with the ISO15189 standard of the service lab in 2004. He is recognised by the Dutch Society of Human Genetics (NVHG) as tutor for the laboratory specialism “clinical molecular geneticist”. He is responsible for the management of the Division, and is budget holder.His main activities are genetic research, clinical molecular genetic diagnostics, with a focus on neurogenetic disorders, education, and professional training. HS has as main fields of research interests: (a) Development and implementation of new molecular genetic approaches, including novel analytical techniques and new approaches for data analysis and interpretation, (b) The molecular genetics of neurogenetic disorders, and (c) Pharmacogenetics. HS coordinated the FP7 Coordinated Project TECHGENE. Within TECHGENE next generation sequencing (NGS) techniques including automated data analysis/interpretation in molecular research and DNA diagnostics are developed, validated and implemented, in particular for genetically heterogeneous disorders.