Duchenne muscular dystrophy

Duchenne Muscular Dystrophy Map (DMD-map)

Duchenne Muscular Dystrophy is the most common form of the muscular dystrophies and a paradigm for degenerating muscle diseases. It is caused by mutations in the DMD gene leading to the deficiency of the dystrophin protein from the sarcolemma of muscle fibres.

Since the identification of its genetic etiology 30 years ago, there has been a huge effort to understand the molecular and pathological mechanisms of the disease. As a result, nowadays we have a reasonable understanding of the key pathways underlying DMD pathology and there are numerous clinical trials underway that target some of the events downstream of dystrophin deficiency. However, there are still many challenges, such as what are the potential drug-drug interactions (in particular with corticosteroids, which are the standard of care for DMD) and the lack of biomarkers that can serve as surrogate endpoints in clinical trials. A limitation for research in DMD and other muscular dystrophies is the fractionation of knowledge and the limited integration between studies, even at the high-throughput data level.

Our aim is to generate a repository that describes molecular mechanisms of DMD (the "DMD-map"), and that supports biomarker identification, omics data interpretation, identification of disease types, mapping drug action mechanisms, developing predictive models and suggesting therapeutic strategies. The DMD-map is designed to be an interactive, open-access resource, providing a reference for the scientific community.

The information and experience gained in constructing the DMD-map could be applied to other muscular dystrophies and myopathies, thus benefiting a wide range of patients with neuromuscular conditions.

Our team is currently working on engaging other experts in the field and identifying key molecular pathways that will become building blocks which may be shared by other disease maps. We are actively seeking for financial support for this initiative as well as promoting the DMD-map as a novel resource for translational research into muscular dystrophies.

DMD-map Development Team

Cecilia Jimenez-Mallebrera, PhD Hospital Sant Joan de Déu, Barcelona, Spain Principal Investigator of the DMD-map project Director, Laboratory for Translational Research into Children's Neuromuscular Diseases

DMD-map Editorial Panel

	Andres Nascimento, MD Hospital Sant Joan de Déu, Barcelona, Spain Consultant in Paediatric, Neurologist, Neuromuscular Unit
	Francesco Muntoni, MD University College London, United Kingdom Professor of Pediatric Neurology and Honorary Consultant in Pediatric Neurology, Dubowitz Neuromuscular Centre, University College London