Science and Research
Understanding the latest research and how the landscape for the treatment of Duchenne is evolving is an essential part of navigating your journey, and this session will ensure you have all the information you need. Our Science and Research stream will run on Friday 14th November and we’ve got the leading experts in Duchenne science to empower you with the knowledge you need to make informed decisions for you and your family.
Understanding the science behind Duchenne
We are really excited to welcome Dr Anna Sarkozy back to our conference this year for the first session in our Science and Research stream on Friday 14th November. Dr Sarkozy is a consultant in neuromuscular disorders, working at the Dubowitz Neuromuscular Centre in Great Ormond Street Hospital. A Duchenne diagnosis is overwhelming, and we know that it can be hard to get the information you need. This session is perfect for newly diagnosed families and will focus on the why, how, when and the genetics behind Duchenne.
Clinical Trial Landscape of Duchenne
The second session in our Science and Research stream is a one-stop-shop for families updates on the current, recently concluded and upcoming trials with Dr Sinthara Ramdas and Dr Mariacristina Scoto. Understanding the latest research and how the landscape for the treatment of Duchenne is evolving is an essential part of navigating your journey, and this session will ensure you have all the information you need.
Overview of current strategies for managing inflamation and fibrosis
Dr Giovanni Baranello holds a joint clinical and research position as Clinical Associate Professor in Paediatric Neurology and Neuromuscular Disorders within the Developmental Neurosciences Department at the Dubowitz Neuromuscular Centre. He’s been involved as principal investigator in numerous neuromuscular clinical trials, predominantly in the areas of Spinal Muscular Atrophy and Duchenne Muscular Dystrophy. In this session he’ll give an overview of the science behind the current strategies for managing inflammation and fibrosis that occurs as a result of the mutation in the dystrophin gene.
Overview of dystrophin restoring strategies
Dr. Annemieke Aartsma-Rus, professor of Translational Genetics at the Department of Human Genetics of the Leiden University Medical Center (the Netherlands) is joining our 2025 event to share her expertise. She played an important role in the development of antisense mediated exon skipping for Duchenne and has published over 240 peer-reviewed papers, 11 book chapters and 15 patents. Dr Aartsma-Rus will focus on providing you with an overview of the science behind the current strategies for targeting the mutation in the dystrophin gene and diving into the dystrophin restoring therapies.
Clinical Trials – what are they and how to access them
Dr Giovanni Baranello and Dr Annemieke Aartsma-Rus will give an overview of clinical trial accessibility, what clinical trials are and why we need them.
From Trial to Treatment: Bridging Clinical Data with Real-World Practice
Have you every wondered what the reported results from a clinical trial or research really means? Dr Giovanni Baranello and Dr Annemieke Aartsma-Rus will highlight the importance of effective communication in science and interpreting clinical trial data within the context of real-world care
Our Science and Research stream will run on Friday 14th November.
Join us – tickets are FREE for Duchenne families and anyone living with Duchenne. It’s an unmissable opportunity to understand the latest research and how the landscape for the treatment of Duchenne is evolving.
Find out more and register for the Action Duchenne International Conference 2025
