The multicenter project ‘INTEGRA-DM1’, headed by the INCLIVA Health Research Institute of the Hospital Clínico Universitario de València, with collaboration from the Germans Trias i Pujol Research Institute (IGTP) in Badalona and the La Fe Health Research Institute (IIS La Fe) in València, has secured one of the grants from the Ramón Areces Foundation's PINERA Program for Rare Diseases Research. This project, selected in the Multicenter Research Project modality, will be developed over 36 months under the coordination of Dr. Arturo López Castel, a researcher at INCLIVA.
The primary objective of ‘INTEGRA-DM1’ is to identify biomarkers for the prevention and treatment of Myotonic Dystrophy type 1 (DM1). DM1 is a rare genetic neuromuscular disease affecting approximately 1 in 10,000 people worldwide. It is characterized by significant clinical heterogeneity, impacting multiple organs and functions, which can reduce patients' quality of life and lifespan. Currently, only palliative drugs are available.
Dr. López Castel's team will integrate data from the transcriptome, metabolome, and microbiome to discover new biomarkers. “Patients with this condition exhibit complex molecular heterogeneity and multisystemic clinical features, only partially understood, leading to significant delays in diagnosis, inefficient monitoring, and great difficulty in approving valid treatments,” explains Dr. López Castel. “In this context, the discovery of new biomarkers in DM1 is vitally important to establish valid prevention criteria and enable personalized medicine approaches for patients.”
The project will utilize cutting-edge omics technologies to compare transcriptomics, metabolomics, and the microbiome in detail between patients and healthy individuals. These findings will be integrated with genetic, proteomic, and clinical data from DM1-Hub, Spain's first clinical registry for DM1, also led by INCLIVA and IGTP groups. Dr. Gisela Nogales coordinates DM1-Hub.
“"With the PINERA Program, the Ramón Areces Foundation consolidates its historical commitment to improving the diagnosis and treatment of conditions affecting over 300 million people worldwide, around 30 million in Europe, and nearly three million in Spain."
The Ramón Areces Foundation's PINERA Program supports research into rare diseases, which affect millions globally, with a high percentage being genetic in origin and manifesting in childhood. The majority of these conditions still lack specific treatments, highlighting the need to boost research and access to innovative therapies.
