Nicole de Leeuw is head of the theme Intellectual Disability & Congenital Anomalies. She is specialized in clinical cytogenetics and the diagnostic application of genome wide SNP array analysis.
The Intellectual Disability & Congenital Anomalies (ID & CA) team exists of three clinical laboratory geneticists, three senior technicians, nine laboratory technicians and a database manager.
This team uses a wide variety of techniques and methods to efficiently identify the cause of a patient’s disorder and to unravel the underlying mechanism. In addition to genome wide SNP array analysis using the Affymetrix CytoScan® High-Density array platform and gene specific analysis by Sanger sequencing, new technologies such as the IonTorrent and Whole Exome Sequencing (WES; sequencing the coding regions of more than 21,000 human genes) are routinely used to reach this goal. By applying WES to patients with severe intellectual disability and their unaffected parents, followed by an in-house developed data-analysis procedure to each trio, we can identify de novo, autosomal recessive, and X-linked mutations that are causative for the clinical phenotype of the patient.
In this way, numerous genetic aberrations, including single nucleotide mutations, copy number variants (CNVs), uniparental disomies and mosaic aberrations can be detected in a fast and reliable way.
Our team also has special expertise in the detection of CNVs in WES data (Rolph Pfundt, PhD) and the genetic causes of Noonan syndrome (Helger Yntema, PhD). Nicole de Leeuw (PhD) is coordinator of the ECARUCA database (www.ecaruca.net).