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Page 4 of 7 Gonzaga-Jauregui et al. Rare Dis Orphan Drugs J 2024;3:6 https://dx.doi.org/10.20517/rdodj.2023.48

Figure 1. Countries represented among the membership of ERCAL/CEPCAL as of January 2024. The current individual members of
CEPCAL represent 20 of the 33 countries in the Latin America and Caribbean region, and members from the United States. Figure
created with mapchart.net.

major themes [Table 1]. A primary focus of ERCAL is to promote and help establish research and
collaborative networks among members and organizations working on RDs throughout the region, to
strengthen the local capabilities and share knowledge, resources, and tools. Similarly, we aim to establish
international collaborations to direct world scene attention to the needs of patients, families, researchers,
and clinicians in LAC. ERCAL members participate in international consortia and projects such as the
International Rare Diseases Research Consortium (IRDiRC), the Undiagnosed Diseases Network
International (UDNI), and the Collaborative Global Network 4 Rare Diseases (CG4RD), emphasizing the
need to direct resources and attention to the development of early diagnosis, integral care, and access to
treatment programs in LAC. This attention is important to achieve healthcare equity and realize the
objectives of the UN Resolution on “Addressing the Challenges of Persons Living with a Rare Disease and
their Families” adopted in 2021 and the WHO Report on “Accelerating access to genomics for global
[10]
health” published in 2022 .
[11]
One of the major challenges in addressing the needs of patients and families in LAC is the limited access to
diagnostic technologies and treatments. While more than 80% of rare and low-prevalence diseases have a
genetic etiology that can be studied through genetic and molecular technologies, the majority of patients in
LAC remain undiagnosed or experience significant delays in receiving a proper and definitive diagnosis.
This not only prolongs their diagnostic odyssey but also hinders the development and implementation of
targeted treatment approaches that could reduce morbidity and mortality and improve quality of life. Initial
efforts from ERCAL to evidence the need for early and effective disease screening and diagnosis strategies
have been made by documenting the current state of newborn screening programs in the region and
proposing strategies for better implementation . Through ERCAL, we aim to help promote and support
[12]
the implementation of molecular diagnostics programs and clinical centers of excellence in the region that
can reduce the diagnosis time for patients living in LAC and provide appropriate care.