CEPCAL (Colaborativa para Enfermedades Poco Frecuentes en el Caribe y America Latina) is a regional collaborative that unites patients, patient organizations, researchers, clinicians, regulators, and industry across Latin America and the Caribbean to advance rare disease diagnosis, research, treatment, and public policy. CEPCAL hosts the annual Congress on Rare Diseases and facilitates working groups focused on access and care.

Eurordis is a non-governmental alliance of over 1,000 rare disease patient organizations across 74 countries. They advocate for policy change at the European and international level and provide programs that connect patients across borders. Eurordis coordinates Rare Disease Day each February and offers resources in multiple languages to support patients, caregivers, and advocates working to improve access to diagnosis and treatment.

Global Genes is one of the largest rare disease patient advocacy organizations in the world. They provide toolkits, guides, and mentorship programs to help patients and caregivers navigate the rare disease journey, from diagnosis through treatment access. Their RARE community connects families with peer support and empowers patient advocates to drive change in their communities and health systems.

The Genetic and Rare Diseases Information Center (GARD), maintained by the U.S. National Institutes of Health, provides free, reliable information on over 7,000 rare and genetic diseases. GARD specialists are available to answer questions in English and Spanish, and the site includes resources for finding specialists, support groups, and current research. An essential resource for patients and families seeking answers.

The National Organization for Rare Disorders (NORD) maintains a comprehensive database of over 1,200 rare diseases with physician-reviewed guides covering symptoms, causes, diagnosis, and treatment options. NORD also connects patients with advocacy organizations, clinical trials, and support resources. A trusted starting point for anyone navigating a rare disease diagnosis.

Orphanet is the global reference portal for rare diseases and orphan drugs, available in multiple languages including Spanish, Portuguese, and English. It provides a searchable database of over 6,000 rare diseases, a directory of expert centers and patient organizations, and an inventory of orphan drugs across all stages of development. Widely used by clinicians and patients throughout Latin America and Europe.

The Rare Diseases Clinical Research Network (RDCRN), funded by the U.S. National Institutes of Health, supports clinical research on over 200 rare diseases at research sites across the U.S. and in more than 20 countries worldwide. Patients can join the RDCRN Contact Registry to learn about research opportunities and connect with study teams and advocacy groups working on their condition.