Prof Conny van Ravenswaaij-Arts

I graduated with an MD degree from the University of Leiden in 1986 and a PhD in Medical Sciences from the Radboud University Nijmegen in 1993. Following a post-MD specialisation, I became a clinical geneticist and cytogeneticist in 1997. In September 2006 I changed affiliation to the University of Groningen, where I became an associate professor in clinical genetics in 2008 and a professor in dysmorphology in 2011.

My main interest has always been children with congenital anomalies and I coordinate a European project on rare chromosome disorders (www.ECARUCA.net). With the introduction of the array technique, I started phenotype-genotype studies in chromosome disorders, introduced this technique in routine diagnostics and discovered the CHD7 gene involved in CHARGE syndrome. I initiated several studies around this syndrome, which resulted in a web-based database (www.CHD7.org) and many papers.

My main focus remains the identification of genetic causes for congenital anomalies using high resolution molecular techniques, implementing these techniques in routine diagnostics and translate the results back to patients and there families.