6th International Symposium on Rare Diseases

Claudia Gonzaga Jáuregui, founder of the Mexican Network of Rare Diseases (ReMexER) and president of the symposium, announced the main academic and community axes of this in-person, virtual, free, and Spanish-language event, to be held on February 27th to mark World Rare Disease Day. In an exclusive conversation with LaSalud.mx, the researcher explained that the symposium, initiated in 2021 during the pandemic, has maintained its virtual format as a deliberate strategy to expand its regional reach, allowing the participation of patients, caregivers, doctors, researchers, and students from Mexico and Latin America, with a focus on education, scientific dissemination, and social awareness. For this sixth edition, she detailed that the event will have a specific focus on Duchenne (DMD) and Becker (DMB) muscular dystrophy, genetic conditions linked to the X chromosome, associated with alterations in the dystrophin gene, which mainly affect the male population. Similarly, it will address the intersection between rare diseases and disability, including the analysis of the Disability Certificate in Mexico and its implications for this population. One of the cross-cutting axes will be the Mexican Registry of Rare Diseases, promoted by ReMexER since 2022. Claudia Gonzaga Jáuregui pointed out that the registry already has around 400 registered people, and after the publication of its first results in October 2024, the data has tripled. However, she stressed that it is still necessary to increase participation to have solid information that allows for improving the design of public policies, access to diagnosis and treatments, and health planning. This thematic block will be developed in collaboration with Duchenne México and Latin American organizations, integrating the clinical, scientific, and direct patient experience perspective. The academic program will include the participation of specialists such as Dr. Carlos Mares, Dr. Edgar Hernández, and Diego Alberto Carrasco, from the UNAM Science Dissemination Laboratory, with sessions dedicated to medical dissemination, rare metabolic diseases, and scientific communication. The specialist warned that although the average time to diagnosis has decreased in Mexico—currently between 6 and 8 years—significant delays persist, especially in the adult population, where the lack of referral to genetics and access to molecular diagnosis limits access to precision medicine, innovative therapies, and international clinical trials. Finally, she highlighted that the symposium maintains as a central principle the active participation of patients and families, as well as international collaboration, aligned with recent initiatives driven by the World Health Organization, aimed at guaranteeing universal access to health for people living with rare and little-known diseases.