Medical Advisory Board

Dr Bregje van Bon
Dr Bregje van Bon
SMAB Member

Dr. Bregje van Bon 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. 

​Dr Siddharth Srivastava
​Dr Siddharth Srivastava
SMAB Member

​Dr. Siddharth Srivastava is a pediatric neurologist at Boston Children’s Hospital specializing in neurogenetics. His research involves studying different genetic causes of neurodevelopmental presentations — such as autism, intellectual disability, cerebral palsy, and developmental regression — using the multimodal approach of gene discovery, cognitive/behavioral phenotyping, and biomarker identification. At Boston Children’s Hospital, he provides care to children in a variety of neurodevelopmental and neurogenetics clinics. He received his B.A. degree in biochemistry from Columbia University and his M.D. degree from Johns Hopkins University School of Medicine. He finished a combined residency in pediatrics and neurodevelopmental disabilities at Johns Hopkins Hospital and the Kennedy Krieger Institute. He completed his fellowship in neurogenetics at Boston Children’s Hospital.

John Ford, MS
John Ford, MS
SMAB Member

John works as a Bioinformatics Scientist at the Lineberger Comprehensive Cancer Center at the University of North Carolina at Chapel Hill. There, he assists investigators in cancer research by working to retrieve relevant data from genomic datasets. He is also employed by the UNC School of Medicine’s Department of Psychiatry where he assists in research on statistical methods for risk analysis of disease progression. John holds a bachelor of science in computer science from the University of Central Florida and a master of science in bioinformatics from Johns Hopkins University. As a recent transplant to North Carolina, he enjoys exploring his new surroundings with his wife and two children, getting to know new restaurants and other fun offerings in the area.