On Saturday, April 12th, we hosted the fourth Symposium entitled “New horizons for research and therapy of 22q11.2 Deletion Syndrome” as part of the STREAMLINE project. The event brought together researchers, clinicians, families, and children with 22q11.2 deletion and duplication syndromes.
It was a great pleasure—and a truly valuable opportunity, especially for parents—to attend presentations from world-renowned experts in the field of 22q11.2 Deletion and Duplication Syndromes. Among the keynote speakers were Prof. Donna McDonald-McGinn, MS, LCGC, Director of the 22q and You Center, Associate Director of the Clinical Genetics Center at the Children’s Hospital of Philadelphia, and Clinical Professor of Pediatrics at the Perelman School of Medicine, University of Pennsylvania, as well as Prof. Ann Swillen, Professor at the Department of Human Genetics at KU Leuven and Head of the Lab for Behavior and Neurodevelopment.
Prof. McDonald-McGinn provided a comprehensive overview of the connection between chromosome 22q11.2 copy number variants and the associated medical, cognitive, and behavioral health challenges. Prof. Swillen shared her extensive expertise in the clinical follow-up and research of neurodevelopmental disorders, emphasizing the critical role of Copy Number Variants (CNVs) in increasing the risk for these conditions.
Additional insights into ongoing international research on 22q11.2 Deletion Syndrome were provided by Prof. David Linden, Scientific Director of the Mental Health and Neuroscience Research Institute at Maastricht University, Netherlands, and Prof. Adrian Harwood from Cardiff University, UK.
Dr. Danijela Drakulić from IMGGE, Dr. Goran Čuturilo from University Children’s Hospital Tiršova, Vesna Vujičić from the organization “22q ex YU,” and Ana Knežević, President of the inclusive center “Here’s a Hand” (Evo ruka), discussed the current state of research and diagnostics related to 22q11.2 Deletion and Duplication Syndromes in the region, and outlined opportunities for future development.
The STREAMLINE team spent this Saturday alongside parents and children affected by 22q11.2 deletion and duplication syndromes, engaging in open conversations and meaningful discussions. It was a valuable opportunity to gain a deeper understanding of the everyday experiences and challenges faced by individuals and families living with these syndromes. Perhaps most importantly, the symposium created a warm and supportive environment for parents to connect with one another—sharing experiences, broadening their perspectives, and engaging directly with some of the world’s leading experts in the field.
