The nautical chart of the genome
This month marks the twenty-fifth anniversary of the launch of the UCSC Genome Browser, a digital tool that has played a key role in the genomics revolution. Created in 2000 by a team of bioinformaticians at the University of California-Santa Cruz, the browser was conceived as an urgent response to the need to visualize the human genome, which had just been sequenced. Today, it remains an essential platform for biomedical research.
The browser allows users to consult the genetic sequence of multiple species and integrate layers of information such as gene expression, mutations associated with diseases, and regulatory regions of the genome. Its use has been essential for understanding the function of specific genes, comparing genomes between species, and studying evolutionary or epigenetic patterns. It is an open, free, and constantly updated tool, which has facilitated its widespread adoption by researchers around the world.
One of the most important applications of the Genome Browser has been in the search for new drugs. Researchers can identify genes involved in diseases, analyze how specific mutations affect their function, and explore potential therapeutic targets. It is also essential in the validation of biomarkers and in the design of personalized clinical trials. Many of the advances in precision medicine in recent years would not be understood without this tool.
In this context, we will mention some of the latest additions to the regulated pharmaceutical market, to understand a little how genomic research has contributed to its development: a clear example is Taletrectinib (Ibtrozi), indicated for patients with lung cancer who have alterations in the ROS1 gene; another case is Garadacimab (Andembry), a monoclonal antibody that blocks "factor XIIa" and is used to prevent hereditary angioedema attacks. This disorder has a known genetic basis, and it has been possible to identify the therapeutic target from the detailed study of the coagulation pathways involved in the pathology; Lenacapavir (Yeztugo), a new drug for HIV prophylaxis, has also been approved and is administered only twice a year. Although its target is not genetic, the study of the virus's resistance mechanisms and the drug's impact on different viral variants has been able to be studied with genomic resources. Finally, Clesrovimab (Enflonsia), an antibody to prevent respiratory syncytial virus (RSV) infection in infants, is situated in a context in which genomics has also helped to better understand the immune response of patients and the design of molecules with greater affinity.
Despite these advances, the recent decision by the Trump administration to eliminate access by several public agencies to the contents of Springer Nature, the publisher of journals such as NatureThe official reason: to save money on "unnecessary science." Without defending the system of scientific journals and publishers—which entail many problems of economic oligopoly and impact hierarchy—these types of measures, clearly ideologized, put open access to scientific knowledge for researchers at risk, hindering their work of advancing scientific knowledge.
Health and strength to the UCSC Genome Browser after twenty-five years! A clear example of public and community scientific infrastructure. A tool that has made it possible to navigate and understand the waters of the genome in a visual way and supported by the scientific community.
