Optical genome mapping: Rio Grande do Sul laboratory uses innovative technique to identify rare diseases

An innovation is transforming genetic research in Brazil: optical genome mapping, a method that allows large segments of DNA to be analyzed and identify structural changes that often go unnoticed in conventional tests. “Unlike traditional sequencing, which reads small portions of DNA, optical mapping works like a ‘photograph’ of long molecules, revealing deletions, duplications, inversions or complex chromosomal rearrangements”, explains genetic biologist Mariluce Riegel-Giugliani, PhD, coordinator of the Anthony Daher Laboratory at Casa dos Raros, in Porto Alegre.

ANSWERS - The project developed at the institution aims to improve the diagnosis and understanding of rare diseases. "We want to offer answers to patients who spend years searching for a diagnosis. By identifying the change in the genome, we are able to guide both clinical monitoring and family counseling", highlights the researcher.

INFRASTRUCTURE - The technique requires advanced laboratory infrastructure. DNA is isolated in long fragments, labeled with fluorescent dyes and analyzed using high-precision equipment. “It’s work that requires cutting-edge technology and professionals specialized in cytogenomics,” explains Mariluce.

Applications include rare syndromes, hematological disorders and some types of cancer. 

In Brazil, few centers develop projects with this approach. “Today we are the only laboratory in Rio Grande do Sul to apply the technique to patients with rare diseases without a defined diagnosis”, says the geneticist. 

"Optical mapping works like a 'photograph' of long molecules, revealing deletions, duplications, inversions or complex chromosomal rearrangements"

AGILITY AND PRECISION - Despite being inserted in a research context, the impact is direct on medical practice. "Our commitment is to transform knowledge into care. We want to incorporate this technology into clinical routine, offering faster and more accurate diagnoses", he adds.

Challenges include the high cost of equipment and team formation. Even so, the expert is optimistic. “Brazil has the potential to occupy a prominent place in precision medicine, benefiting thousands of patients with rare diseases”, he analyzes.