Working to facilitate rapid translation of scientific discoveries into therapeutics

Conny M.A. van Ravenswaaij-Arts

C.M.A. van Ravenswaaij-Arts

Conny M.A. van Ravenswaaij-Arts, MD, PhD

Professor Conny van Ravenswaaij-Arts 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, she became a clinical geneticist and cytogeneticist in 1997. In September 2006 she changed affiliation to the University of Groningen, where she became an associate professor in clinical genetics in 2008 and a professor in dysmorphology in 2011. Her main interest has always been children with congenital anomalies and she coordinates a European project on rare chromosome disorders. With the introduction of the array technique, she started phenotype-genotype studies in chromosome disorders, introduced this technique in routine diagnostics and discovered the CHD7 gene involved in CHARGE syndrome. She initiated several studies around this syndrome, which resulted in a web-based database and many papers. Her 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 their families.

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