Marianne van den Bree, Professor, Division of Psychological Medicine and Clinical Neurosciences at Cardiff University
Professor van den Bree leads Cardiff University’s Rare Genetic Variant Research Programme, which seeks to understand how rare genetic variants—such as micro-deletions or duplications—affect the development and daily lives of children and young people. The programme also explores the impact of these conditions on families, with the goal of answering the questions that matter most to those directly affected. Through close collaboration with families and charities, the programme addresses real-life challenges.
To date, nearly 1,000 families have participated in our research, and many have done so more than once. Over the past 15 years, the team has gained valuable insights into the challenges these children, young people, and their families face. In her presentation, Prof. van den Bree will share key findings on areas such as neurodevelopment, mental health, motor coordination, irritability, sleep patterns, peer relationships, and eating difficulties. Notably, her research reveals that children with various rare genetic deletions and duplications often experience similar difficulties.
Additionally, Prof. van den Bree will discuss parents’ experiences as they seek support for their children. The Rare Genetic Variant Research Programme is committed to raising awareness of rare genetic conditions and has developed informational resources for families to support them on this journey.