STREAMLINE Symposium „ New horizons for research and therapy of 22q11.2 Deletion Syndrome “

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.

Naslovna

Overview of the STREAMLINE International Spring School “Emerging technologies and new horizons for research and therapy of human Neurodevelopmental Disorders (NDDs)”

The third STREAMLINE Spring School took place from April 9–11, 2025, at the Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade, Serbia, and was dedicated to state-of-the-art research in neurodevelopmental disorders (NDDs). This Spring School was co-organized by IMGGE, Serbia and Cardiff University, UK and gathered 34 PhD students from Serbia and Bosnia and Herzegovina. Participants had the opportunity to deepen their knowledge and skills through expert-led lectures and hands-on training. Topics covered included the use of patient-specific induced pluripotent stem cells (iPSCs), brain organoids, and multi-OMICS technologies in modeling NDDs. Sessions also highlighted advanced imaging techniques for investigating cellular architecture, dynamics, and function, as well as the crucial connection between cellular mechanisms and clinical insights into NDDs.

Students had a unique opportunity to learn from the experts from Serbia, UK, Netherlands, Switzerland and Greece. The Spring School provided an inspiring environment for scientific exchange, fostering lively discussions and new professional connections. We hope this experience will contribute meaningfully to the participants’ academic development and future scientific breakthroughs.

We extend our sincere gratitude to all participants and speakers for their invaluable contributions.

Milena

Overview of Open session of the International Spring School “Emerging technologies and new horizons for research and therapy of human Neurodevelopmental Disorders (NDDs)”

The Open session of the International Spring School took place on April 9, 2025 at the Institute of Molecular Genetics and Genetic Engineering, University of Belgrade. We were delighted to welcome PhD students, researchers and clinicians from across Serbia who had a great opportunity to hear about the latest breakthroughs in research and therapy for human neurodevelopmental disorders, presented by leading experts from Europe and the USA. Academician Milena Stevanovic, PI of the STREAMLINE project, opened the session with overview of the STREAMLINE project. Prof. Donna McDonald-McGinn, MS, LCGC, Director of the 22 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 at the University of Pennsylvania, gave overview of the relationship between chromosome 22q11.2 copy number variants and associated medical, cognitive and behavioral health challenges. Another outstanding presentation came from Ann Swillen, Professor at the Department of Human Genetics at KU Leuven and Head of the Lab for Behavior and Neurodevelopment. With over 30 years of experience, Prof. Swillen shared her extensive expertise in the clinical follow-up and research of neurodevelopmental disorders, emphasizing the role of Copy Number Variants (CNVs) in increasing the risk for such conditions. Prof. David Linden, Scientific Director of the Mental Health and Neuroscience Research Institute at Maastricht University, Netherlands, presented results from neuroimaging and phenotyping studies in genetic neurodevelopmental disorders, while Dr. Janet Harwood, from Cardiff University, UK, introduced MINDDS-connect – an innovative data and resource sharing platform aimed at accelerating research and collaboration in the field of neurodevelopmental disorders.

It was an honor and a pleasure to host such esteemed experts from both Europe and the USA, and we look forward to continued collaboration and knowledge exchange in the future.