African American children with asthma are six times more likely to die from complications of the respiratory disease than European children because they do not respond well to bronchodilator treatments. And, in general, Asian and Latin American people are three times more likely to develop lupus—an autoimmune disease—than Europeans. These are two examples of the crucial role our genetic ancestry plays in our risk of developing a disease or in how effectively medications work for us. This is why studying genes is crucial to identifying both the functions they perform and the characteristics they are responsible for. Since the human genome was first sequenced in 2001, scientists have used it as a reference and have created gene maps—highly detailed catalogs that show the position of each human gene and all its functions. The problem is that these maps have been built almost exclusively from data of people of European descent. They are biased and do not represent all of humanity, as revealed for the first time by a study co-led by two Catalan centers, the Barcelona Supercomputing Center - National Supercomputing Center (BSC-CNS) and the Centre for Genomic Regulation (CRG) of Barcelona, ​​and published in Nature Communications"These gene maps, fundamental to biomedical research and used daily by the scientific community, are based on a small sample of humanity," notes Pau Clavell, a researcher at the BSC and the CRG and author of the study. "They have blind spots because they don't include the specific biology of populations from other continents," he emphasizes, adding that this means that RNA molecules—fragments of DNA that genes create to perform a specific function and that are fundamental to biological processes—which could be potentially important in diseases are "invisible" to the scientific community. Discoveries of thousands of new molecules

Catalan researchers analyzed the genetic information of immune cells present in the blood of 43 individuals from eight different human populations: three African, two Asian, two European, and one Native American. They discovered 41,000 new RNA sequences, the vast majority in the genetic material of populations of non-European ancestry. Some of these new sequences appeared in genes related to diseases whose incidence varies among populations, such as lupus, rheumatoid arthritis, asthma, and cholesterol control. "Without these RNA molecules, reference gene maps do not contain key information for understanding why some common diseases act differently in some human groups," notes BSC researcher Marta Melé, senior co-author of the study. They also identified 476 new genes, regions of the genome that were not previously known to produce RNA molecules.

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Biochemist and cell biologist Mónica Bettencourt-Dias will be the first female director of the Center for Genomic Regulation (CRG). Bettencourt was appointed on Monday by the CRG's board of trustees and will succeed Luis Serrano, who has led the institute for 15 years, in 2026. Thus, Bettencourt will be the first woman to lead the Catalan research center since it was founded 25 years ago.

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"We have taken a very important step towards understanding the language of DNA." With this statement, Lars Velten, a researcher at the Center for Genomic Regulation (CRG), tried to quantify the extent to which the results of the study his team published this Thursday in the journal CellThe research group from the CRG and EMBL-Barcelona has succeeded in creating an artificial intelligence (AI) tool capable of designing regulatory DNA sequences never seen in nature. "We can say that we have created new switches [enhancers] that until now did not exist in the mammalian genome and that in the future could be used to control whether a gene is turned on or not in a specific cell," explains Velten, lead author of the research.

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Little did Eva Maria Novoa (Barcelona, ​​1984) know when her father took her as a young girl to the National Research Awards ceremony that she, too, would one day stand on that same stage to collect one of those prestigious awards. She, who since she was a child had promised herself a thousand times that she would not dedicate herself to science after having been taught at home how demanding a research career can be; she, who had seen less than she would have liked from her father, a physical chemist devoted body and soul to research.

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