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On July 3, 2025, Hospital del Mar announced its leadership in research on optical genome mapping, a novel technique in cytogenetic analysis that enables the study of large DNA fragments. This innovative methodology offers a valuable tool for identifying alterations in patients with genetic disorders and various types of cancer, including chronic lymphocytic leukemia.
The Molecular Cytogenetics Laboratory of the Hospital’s Pathology Service has become a pioneer in Catalonia in the clinical application of this technology. In collaboration with MD Anderson Cancer Center in Houston, they have led two studies published in the American Journal of Hematology. These works are essential for establishing optical genome mapping as a standard technique in the diagnosis of hematological neoplasms.
The first study, conducted by the International Consortium for OGM, provides recommendations on how to integrate optical mapping into the routine diagnosis of different pathologies. Dr. Blanca Espinet, head of the Molecular Cytogenetics Laboratory, stated that this new standard will allow for high-quality cytogenetic information, thereby updating diagnostic and classification models in line with the latest guidelines from the World Health Organization.
In another study, over one hundred cases of chronic lymphocytic leukemia were examined, highlighting the capability of optical mapping to detect prognostic biomarkers. Dr. Anna Puiggros, another key researcher, noted that the results demonstrate the effectiveness of optical mapping as a complement to traditional diagnostic techniques, showing a greater number of alterations per patient compared to more conventional methods.
With these significant advances, Hospital del Mar not only consolidates its position in biomedical research but also establishes itself as a leader in the adoption of advanced technologies for the diagnosis and treatment of hematological diseases.
via: MiMub in Spanish
