Active Genetics & Molecular Biology Cancer

A Latin American pangenome for mapping structural variation of medical relevance in underrepresented indigenous ancestries

Funder Wellcome Charity-funded
Recipient organisation Institut Pasteur de Montevideo
Funding £706K
Period Jun 2025 — Jun 2030

In plain English

AI plain-English summary

A 30-researcher consortium spanning ten Latin American countries is building a pangenome—a reference map of human genetic diversity—focused on indigenous ancestries, which are almost entirely absent from existing genomic databases. Most large genomic studies have been done on people of European descent. This means that genetic variants that cause or protect against disease in other populations are routinely missed. For example, gallbladder cancer is unusually common among Indigenous Chilean individuals of Mapuche ancestry, yet the structural variants—large rearrangements of DNA—that may drive this risk have never been systematically catalogued. Without such a map, health disparities widen: diagnostics, drugs, and risk predictions designed for European genomes may not work for these populations. If successful, the LatinGenomes pangenome will allow researchers to discover structural variants specific to Latin American ancestries and link them to gene expression changes in immune cells and gallbladder tissue. This could reveal the biological pathways behind gallbladder cancer and other regionally important diseases. The project also builds local sequencing expertise and community engagement across Latin America, creating infrastructure that will support future biomedical research in underrepresented populations.

View original technical description
Large-scale genomic studies of non-European cohorts are urgently needed to propel the discovery of medically relevant variants in diverse ancestries that remain underrepresented. Otherwise, population-specific variation will continue to be missed, perpetuating health disparities. To tackle this challenge, the LatinGenomes consortium brings together more than 30 researchers representing ten countries across Latin America to build a pangenome representative of indigenous ancestries across LATAM. This will allow us to discover structural variants relevant for the region and investigate their role in gene expression changes at the cellular level in immune cells and gallbladder tissues. Given the higher risk of gallbladder cancer in Indigenous Chilean individuals of Mapuche ancestry, we will further investigate the association of germline and somatic structural variants with single-cell gene expression, revealing genes of interest, dosage and direction effects and pathways relevant for the physiopathological understanding of this cancer of high disease burden for South America. We will foster international collaboration while promoting local capacity building and training across LATAM. An endeavor of this caliber, rooted in community engagement and led by local experts is unprecedented for Latin America and will be of great value for biomedical research and global health.

View the original record at the funder ↗

Researchers

Lucia Spangenberg (EPMC Awardee)

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Original classification

Discovery Award

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