Events

 🌍 European MED13L Family & Research Conference 2025
📅 17–18 October 2025 

 Lyon, FranceLast weekend, the MED13L community gathered in Lyon for an extraordinary two-day event that brought together families, researchers, and clinicians from around the world. Representatives from France, the USA, Spain, and the UK presented their organisations, there were other countries who are creating or thinking about it present demonstrating the growing international collaboration between MED13L charities.

✨ Key Speakers and Their Research:

• Prof. Vincent des Portes – University of Lyon, France.
  Welcome address. Specialist in paediatric neurology and rare intellectual disabilities, leading collaborative work on neurodevelopmental disorders.
• Dr. Jamal Ghoumid – Lille University Hospital, France.
  “Recent scientific research on MED13L.” Co-Chair of the conference and a key figure in MED13L research, advancing knowledge on the genetic and clinical spectrum of the condition.
• Dr. Thomas Smol – University of Lille, France.
  “How to understand a genetic report.” Co-Chair, molecular biologist and medical geneticist focused on translating complex genetic data into clinical practice.
• Dr. Roseline Caumes – Lille University Hospital, France.
  “Clinical characteristics of MED13L syndrome.” Dedicated to identifying shared features and early signs in individuals with MED13L.
• Dr. Marissa Weyer Mitchel – Geisinger Medical Institute, Germany.
  “Language disorders in MED13L syndrome.” Researching how MED13L variants impact speech and communication development.
• Dr. Johnny Bou-Rouphael – Paris Brain Institute, France.
  “Organoid models: an innovative approach to understanding MED13L.” Using brain organoid technology to explore how MED13L variants affect neural development.
• Alicia Campbell, PhD – Rowan University, USA.
  “Exploring MED13L: a research-based overview of gene function and clinical presentation.” Examining how disruptions in the MED13L gene contribute to both neurological and developmental outcomes.
• Catherine Thibaud – Speech therapist, psychologist, and author.
  “Language and MED13L.” Focusing on therapeutic approaches to improve communication and learning in individuals with MED13L syndrome.
• Misia Kowanda, PhD, MSc, CGC – Simons Searchlight.
  “Presentation of MED13L data.” Sharing valuable research data collected from families worldwide to support ongoing genetic and clinical studies.

💙 The conference highlighted the importance of global collaboration, uniting experts and families in a shared mission to better understand MED13L syndrome, promote innovative research, and strengthen family support networks.