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Gonzaga-Jauregui et al. Rare Dis Orphan Drugs J 2024;3:6 Rare Disease and
DOI: 10.20517/rdodj.2023.48
Orphan Drugs Journal

Perspective Open Access

ERCAL, a regional initiative for rare diseases in Latin
America and the Caribbean

1
1
1,3
Claudia Gonzaga-Jauregui 1,2 , Carlos Salazar , Jennifer MacDonald , Juergen K.V. Reichardt , Stephen
C. Groft 1,4
1
Colaborativa Para Enfermedades Poco Frecuentes en el Caribe y América Latina (CEPCAL), Previously Enfermedades Raras en el
Caribe y América Latina (ERCAL) Initiative, Querétaro 76230, México.
2
International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación Sobre el Genoma Humano,
Universidad Nacional Autónoma de México, Querétaro 76230, México.
3
Australian Institute of Tropical Health and Medicine, James Cook University, Smithfield, QLD 4811, Australia.
4
Division Of Rare Diseases Research Innovation, National Center for Advancing Translational Sciences, National Institutes of
Health, Bethesda, MD 20817, USA.
Correspondence to: Dr. Claudia Gonzaga-Jauregui, International Laboratory for Human Genome Research, Laboratorio
Internacional de Investigación Sobre el Genoma Humano, Universidad Nacional Autónoma de México (UNAM), Blvd. Juriquilla
3001, Juriquilla, Querétaro 76230, México. E-mail: cgonzaga@liigh.unam.mx; Dr. Stephen C. Groft, Division Of Rare Diseases
Research Innovation, National Center for Advancing Translational Sciences, National Institutes of Health, 6701 Democracy Blvd,
Bethesda, MD 20817, USA. E-mail: stephen.groft@nih.gov
How to cite this article: Gonzaga-Jauregui C, Salazar C, MacDonald J, Reichardt JKV, Groft SC. ERCAL, a regional initiative for
rare diseases in Latin America and the Caribbean. Rare Dis Orphan Drugs J 2024;3:6. https://dx.doi.org/10.20517/rdodj.2023.48
Received: 1 Nov 2023 First Decision: 12 Jan 2024 Revised: 30 Jan 2024 Accepted: 20 Feb 2024 Published: 27 Feb 2024

Academic Editor: Daniel Scherman Copy Editor: Fangyuan Liu Production Editor: Fangyuan Liu

Abstract
The importance of establishing programs to address the challenges of patients living with rare diseases has been
recognized internationally, yet many countries, especially in low- and middle-income regions, are lagging in the
recognition of the challenges and needs of patients and families. To improve this situation, the Enfermedades Raras
en el Caribe y America Latina (ERCAL) initiative was established in 2020 with the vision of bringing together
patients, patient representatives, organizations, researchers, clinicians, regulators, and all interested stakeholders
in the rare diseases ecosystem under a common collaborative platform to sum efforts to improve the lives of
patients and families living with rare diseases in the Latin American and the Caribbean region. Over the last three
years, we have been working consistently to establish an agenda of priorities and objectives to guide the work of
the initiative and address the major challenges faced by the rare disease community in the region.
Keywords: Rare diseases, Latin America, ERCAL, CEPCAL, collaboration, precision medicine

© The Author(s) 2024. Open Access This article is licensed under a Creative Commons Attribution 4.0
International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, sharing,
adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as
long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and
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