Dr Bregje van Bon, MD, PhD

Dr. Bregje van Bon, M.D., Ph.D. is a clinical geneticist in Nijmegen, Netherlands at Radboud Medical Center. She combines clinical work in the hospital with teaching medical students and conducting research in the lab. In one of her research projects, the SETBP1 gene was discovered as the cause of a severe congenital malformation syndrome named Schinzel-Giedion Syndrome (SGS). She collected the clinical and molecular details from numerous affected individuals and published her findings. 

Several years later a young boy visited her genetic clinic, who had learning difficulties and speech problems. Genetic testing showed a DNA variation (mutation) in the SETBP1 gene. This was a completely different type of mutation compared to those identified with SGS. After this first child, several other individuals worldwide were identified with similar SETBP1 mutations. A novel disorder was born and due to her long standing interest in SETBP1, Bregje began following individuals with SETBP1 disorder. 

At home, she lives with her husband and three school-aged boys.