The second Congress on Rare and Uncommon Diseases of the Caribbean and Latin America (CEPCAL 2024) was held in Mexico City last October. Over three days, experts from Latin America and beyond gathered to share knowledge and strategies aimed at improving the quality of life for millions of patients living with rare conditions in the region.
One of the highlights of the congress was the symposium on Newborn Screening, commemorating the 50 years of its implementation in Latin America. This event brought together experts, legislators, and patient organizations to address the challenges and opportunities facing more than 50 million people with rare conditions in the region.
The president of the Collaborative for Rare Diseases in the Caribbean and Latin America (CEPCAL), Dr. Claudia Gonzaga-Jáuregui, emphasized the importance of the congress as a vital platform to discuss the challenges and opportunities in the care of rare diseases. During the event, the need for collaboration between countries and sectors was highlighted, with participation from representatives of the industry, government, and medical community.
The sessions of the congress allowed attendees to delve into specific areas such as access to treatments and advancements in the diagnosis of rare diseases. They focused on critical issues such as newborn screening, access to treatments, and education on rare diseases. International experts from different countries, including the United States, Spain, and Latin America, shared their knowledge at the event.
During the congress, initiatives to improve the diagnosis of rare diseases were discussed, presenting new technologies and approaches in molecular diagnostics. Participants also focused on how to implement the recommendations emerging from the discussions to advance legislation and the implementation of technologies that enable more effective diagnosis and treatment.
In various concurrent sessions, topics such as legislation and regulation in rare diseases, molecular diagnostics, and access to digital technologies were addressed. Participants highlighted the importance of collaboration and the inclusion of patients in these conversations to achieve concrete actions that improve care and access to treatments in the region.
