Dorien Lugtenberg studied chemistry and received her PhD in molecular genetics from the Radboud University Nijmegen, where she studied copy number variation in patients with X-linked intellectual disability. After her PhD, she worked for two years as an investigator in the pharmaceutical industry. Nowadays, she is in training as a laboratory specialist clinical genetics in Nijmegen. During her traineeship she assisted in the implementation of exome sequencing in a diagnostic setting. She has experience in the analysis and interpretation of exome sequencing data of a wide variety of diseases, with a focus on intellectual disability, blindness, renal disorders and ciliopathies. Furthermore, she is involved in the further optimization of large scale exome sequencing data interpretation and reporting.