Conny van Ravenswaaij-Arts

Conny van Ravenswaaij-Arts is a Professor at the Faculty of Medical Sciences of the University of Groningen, working within the Clinical Cognitive Neuropsychiatry Research Program (CCNP). She is a leading researcher in medical genetics with expertise in neurodevelopmental disorders, chromosomal abnormalities, and specific genetic syndromes including CHARGE syndrome and Phelan-McDermid syndrome.

Her research focuses on genetics, cytogenetics, and neurodevelopmental disorders, with significant contributions to understanding CHARGE syndrome, CHD7 gene function, intellectual disability mechanisms, and haploinsufficiency. She has extended her work to chromosome 6 and chromosome 22 disorders, developing innovative approaches for clinical information delivery to families through parent-centered websites.

Analysis of her recent publications reveals a strong emphasis on guideline development for rare genetic conditions, molecular mechanisms of neurodevelopmental disorders, and patient-centered approaches to managing chromosomal abnormalities. Her work bridges basic science with clinical application, particularly in the areas of genetic counseling and syndrome-specific management.

• Honorary Membership (2016)
• Star in CHARGE Award (2015)

Dr. van Ravenswaaij-Arts has supervised multiple research projects and serves as a board member for the Phelan-McDermid Syndrome Foundation. Her collaborative network spans numerous countries, reflecting the international nature of rare genetic disorder research. She has contributed significantly to editorial work, including serving as guest editor for the European Journal of Medical Genetics, and has been instrumental in organizing consensus meetings for clinical guidelines development.

Her laboratory and research team are involved in multiple international consortia focused on rare chromosomal disorders, with particular emphasis on translating genetic findings into clinical practice and developing resources for patients and families.