Generales

By Andrea Carolina Vargas Malagón, Journalist at UdeA Communications Office

Universidad de Antioquia, along with public and private universities and commercial partners, successfully sequenced the complete genomes of two Colombian centenarians—a man and a woman. This achievement provides a foundation for exploring the factors that allow people to live over 100 years.

Sequencing the complete genome of a woman over 100 years old created an archive of nearly 1 TB—the equivalent of 1,000 HD movies. Photo: UdeA Communications Office / Alejandra Uribe F.

The Next Generation Genomic Sequencing Unit at Universidad de Antioquia (Uni-SEQs, UdeA) leads a Genomic Alliance in Medellin, achieving the first complete genome sequencing of two Colombian centenarians—a woman (XX) and a man (XY). This milestone contributes significantly to our understanding of longevity and marks a vital advance in UdeA’s entry into human genomics, positioning Colombia at the forefront of science, technology, and innovation.

“Until now, at Universidad de Antioquia, we had only studied individual genes within the human genome or, at best, a small subset—no more than a dozen out of the more than 20,000 genes that define human development. This groundbreaking achievement would not have been possible without the support of key partners, such as the One Health Genomic Laboratory at the National University of Colombia, Medellín campus, and Axomics, a spin-off from Eafit University. Additionally, we received vital contributions from Oxford-Nanopore Technologies (ONT), which donated essential supplies, and Suministros Clínicos ISLA SAS, which provided logistical and administrative support alongside the Universidad de Antioquia Foundation,” said Gustavo Adolfo Gámez de Armas, PhD in Molecular Biology and Genetic Engineering, and coordinator of Uni-SEQs.

Sequencing the complete genome of a long-lived individual is the first step in understanding what allows this population to live such long, healthy lives—often without significant health issues. However, Professor Gámez notes that fully uncovering the factors behind their longevity requires sequencing more genomes of centenarians for comparison to identify common traits that contribute to their extended lifespan.

“Our DNA shapes us, but so does our environment. Sequencing the genome of a newborn—who has yet to encounter external influences like cold, sun, and pollution—is vastly different from sequencing the genome of a centenarian. The centenarian has adapted to these positive and negative influences for over 100 years. Human genetics is intricate and offers us a wealth of knowledge,” said Professor Gámez.

The species’ “blueprint for life”

Like a machine, the human body has an instruction manual explaining its purpose and function. Each cell contains DNA that holds this crucial information, and by sequencing it, we can uncover the complete manual. These raw POD5 files are the format Oxford-Nanopore Technologies uses to store DNA information.

The complete genome sequencing of the 100+-year-old woman generated a 1 TB archive, roughly equivalent to 1,000 HD movies.

In 2003, humanity first encountered the sequencing of a human genome, which cost about 3 billion dollars. However, the first-generation technology used in the process couldn’t capture the filled genetic information, leaving gaps in the sequence—like a half-completed jigsaw puzzle. Nearly two decades later, third-generation platforms like ONT and PacBio filled these gaps. The fully completed human genome was officially published on March 31, 2022, and is now known as the human reference genome.

“Using the reference genome and bioinformatics tools, we can organize the sequences of each chromosome, establish their order, and create a physical map. It’s similar to using the image on a puzzle box to guide the assembly,” explained Gámez. He added, “Sequencing a human genome is like having the entire collection of books from the Carlos Gaviria Díaz Library at UdeA, where experts select the relevant ‘book’ and interpret its meaning.”

Twenty years ago, a process that took more than a decade now takes just days and costs a fraction as much. “We now generate a human genome sequence in under three days and analyze the data within weeks. In just 10 years, we’ve reduced the cost from 3 billion dollars to about 1,000 dollars,” said Javier Correa, biologist and research professor at Eafit University. He leads the bioinformatics analysis at the Apollo Scientific Computing Center, a ‘supercomputer’ capable of performing large-scale simulations and research.

The One Health Genomic Laboratory at the National University of Colombia also conducted the bioinformatics analysis of the POD5 files, including the technical reading process. “The human genome is vast and complex. By working together on the bioinformatics analysis, we aim to have all the data within 2 to 3 months. Our strategy is to work in parallel, and once each team—UdeA, Eafit, and Unal—completes its analysis, we’ll compare the results to identify any similarities or differences in our approaches,” explained Laura Silvana Pérez, biologist and scientific coordinator at the One Health Genomic Laboratory.

What is the goal of sequencing these genomes?

This achievement highlights the importance of institutional collaboration and the creation of cooperative networks that showcase academia’s scientific and technological strengths. Photo: UdeA Communications Office / Alejandra Uribe F.

While the principal goal of this long-term project is to identify the genetic factors behind longevity, it also contributes to personalized medicine. It has the potential to strengthen preventive healthcare. 

“Sequencing each person’s genome will enable doctors in the future to predict potential diseases and take proactive steps to reduce the likelihood of those conditions arising. If a disease does develop, they will be able to identify the right medication more effectively, at the right time, and in the right dose for each individual,” explained Gámez.

On the other hand, the collaboration between institutions to achieve this milestone emphasizes the importance of building cooperative networks that highlight the scientific and technological strengths of academia and the country, positioning them at the forefront of knowledge creation and innovation.