Development and Innovation Section

This section is developing new techniques with the explicit aim of implementing them into general health care practice. Next generation sequencing is allowing us to hugely increase the volume of DNA and RNA analyses, while reducing costs. Profiling the genetic variation of patients and healthy individuals is now within reach. However, translating these findings into prevention, improved diagnoses, and treatment of diseases is a real challenge and requires close collaboration between experts from various fields, both inside and outside our genetics department.

Current research projects

• 5GPM - Rapid whole genome sequencing for critically ill newborns more
• Improved diagnosis of familial cancer risk through next generation sequencing
• Clinical interpretation of Mismatch Repair Gene variants. We have created the MMR Gene Unclassified Variants Database and are part of the International Mismatch Repair Consortium and the InSiGHT-Human Variome Project task force
• Establishing the non-inherited genetic changes in renal cell cancer and other cancer types to support diagnosis and therapy
• Implementing the use of clinical pharmacogenetics in our university medical centre and in regional clinics and hospitals
• Non-invasive Prenatal Testing (NIPT) through next generation sequencing (more info in Dutch)
• Epigenetics profiling of normal and disease tissue in joint projects with other departments (including Pulmonology and Pediatrics)
• RNA sequencing, including the bioinformatics required
• Development of phenotype codes to support the international exchange of genotype-phenotype data
• Online database to support clinical cancer genetics (www.facd.info)
• Development of new diagnostic tools for monitoring and treatment preferences of patients with clear cell renal cell carcinoma: genetic mutations as potential novel molecular markers (PhD project of Ferronika Paranita)

The section includes the Genome Analysis Facility, which runs a service for SNP array genotyping, expression arrays and next generation sequencing. For the sequencing experiments, the Genome Analysis Facility collaborates closely with the department’s bioinformatics section (Genomics Coordination Center).

The Development & Innovation section is headed by Dr Rolf Sijmons, Professor of Medical Translational Genetics. His staff includes 4 molecular biologists, an expert on statistics in genetics, the manager of the Genome Analysis Facility, and several lab technicians. The section often has PhD students and other graduate students working in its lab.

See also Systems Genetics and Molgenis.

Recent papers

Novel algorithms for improved sensitivity in non-invasive prenatal testing. Johansson LF et al. Sci Rep 2017;7:1838

GAVIN: Gene-Aware Variant INterpretation for medical sequencing Van der Velde KJ, de Boer EN, van Diemen CC, Sikkema-Raddatz B, Abbott KM, Knopperts A, Franke L, Sijmons RH, de Koning TJ, Wijmenga C, Sinke RJ, Swertz MA. Genome Biol 2017;18:6

CoNVaDING: Single Exon Variation Detection in Targeted NGS Data Johansson LF, van Dijk F, de Boer EN, van Dijk-Bos KK, Jongbloed JD, van der Hout AH, Westers H, Sinke RJ, Swertz MA, Sijmons RH, Sikkema-Raddatz B. Hum Mutat 2016;37:457-64

Contact

Prof Rolf Sijmons, email
Tel. +31 50 3617160 /3617100