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A study involving more than 1,500 patients is analysing genetic variants linked to psychiatric disorders and exploring tools to help psychiatrists identify patients with a possible genetic origin of their condition. This work is part of the CESPED project, coordinated by Hospital Universitari Institut Pere Mata (HUIPM) and the Institut de Recerca Biomèdica Catalunya Sud (IRB CatSud, formerly IISPV). The project has a budget of €1.7 million funded by the Instituto de Salud Carlos III (ISCIII) through the European Union’s Recovery and Resilience Facility. In addition, 17 Spanish research groups have participated, including 12 from CIBERSAM. Preliminary results show a frequency close to 3% of microdeletions and microduplications -losses or gains of genetic material- in the Spanish population, which is similar to international studies. The test used combines clinical information, such as psychiatric diagnosis, and also analyses facial features. At present, researchers are still analysing the data and final results are not yet available. However, the study coordinator, Elisabet Vilella -also deputy director of IRB CatSud and head of the Neuroscience and Mental Health area- is optimistic. She explains that “the first results suggest that the frequency of these genetic variants in Spain is around 3%, similar to what has been reported in other countries”. The CESPED project started in 2023 and recently held its final meeting in Barcelona. It was developed in response to growing knowledge about the role of genetics in psychiatric disorders, especially neurodevelopmental conditions. Because these cases are difficult to identify in daily clinical practice, the project aims to develop tools to help professionals detect patients who may have a genetic basis and guide further testing. The research shows that a large part of psychiatric disorders has a genetic component, which can be up to 80% in neurodevelopmental disorders such as autism, ADHD or psychosis. It also shows that between 2% and 5% of patients carry genetic variants caused by gains or losses of genetic material, which may explain the disorder. These changes often affect several genes and organs and can lead to multi-system conditions known as syndromes. For psychiatrists, it is difficult to recognise these cases during a consultation. For this reason, within the CESPED project, a test has been developed to collect key information, such as diagnosis, age of onset, developmental issues, intellectual disability or resistance to treatment. The test also includes a facial photograph to identify specific physical features. The sample The 14 research groups involved in recruitment worked for two years to obtain a sample of 1,555 patients: 471 children and 1,084 adults. Diagnoses include autism spectrum disorder, ADHD, schizophrenia and other psychoses, and bipolar disorder type 1. Different techniques are used to detect genetic variants. Each participant will receive a report, and those with identified genetic changes will be advised to visit a clinical genetics unit for further evaluation. Este proyecto está financiado por el Instituto de Salud Carlos III (ISCIII), la Unión Europea-NextGenerationEU y el Plan de Recuperación Transformación y Resiliencia (PRTR), con el código PMP22/00088.

A study has identified, for the first time, non-invasive biomarkers able to detect early stages of hepatic steatosis — also known as fatty liver — in children and adolescents who acquired the Human Immunodeficiency Virus (HIV) at birth. The study, published in Communications Medicine, was coordinated by researchers from the CIBER area of Infectious Diseases (CIBERINFEC) at the Joan XXIII University Hospital of Tarragona – Pere Virgili Health Research Institute (IISPV), and the La Paz University Hospital. The team also included members from Rovira i Virgili University (URV), the La Paz Research Institute (IdiPAZ), and the Autonomous University of Madrid (UAM). This work represents an important step forward in improving the diagnosis of a complication that affects around 30% of this pediatric population.

De izqda. a dcha.: Talía Talía Sainz, Anna Rull y Silvia Chafino.

Hepatic steatosis is common in people living with HIV, and its prevalence among children and young people is also close to 30%. However, non-invasive diagnostic methods used in adults do not work properly in pediatric patients. “Until now, we lacked reliable tools to detect fatty liver in young people with HIV without using invasive techniques. It was essential to find specific biomarkers that could identify the disease in its earliest stages,” explained Anna Rull and Talía Sainz, CIBERINFEC researchers from Joan XXIII University Hospital – IISPV and La Paz Hospital, who led the study.

Advanced Metabolomic Analysis

This study used advanced metabolomic techniques to analyze blood and stool samples from 29 participants, examining circulating fats, bile acids, and intestinal bacteria. This approach allowed the detection of very precise metabolic changes that may indicate liver damage even before symptoms appear.

Among all the molecules studied, two types of triglycerides (TG54:5 and TG56:7) and the bile acid UDCA stood out for their ability to distinguish young people with hepatic steatosis from those without the disease. “The combination of triglyceride TG56:7 and bile acid UDCA greatly improved the ability to separate the two groups,” said Silvia Chafino, CIBERINFEC researcher and first author of the study.

The study also showed that total triglycerides, usually used in adults to evaluate liver function, did not show significant differences between groups in this pediatric cohort. This highlights the importance of exploring specific triglycerides.

The intestinal microbiota was also examined, given its role in transforming bile acids. Although no differences were found between groups, positive correlations were observed between UDCA and the bacterium Collinsella, known to produce this bile acid. This may explain the trends observed, according to the research team.

Finally, the integrated analysis of bile acid profiles identified a subgroup within the control population that showed a pattern similar to children with hepatic steatosis. The researchers emphasized that these results “suggest that early changes in bile acid levels may reflect an initial pathological state, even before clear clinical signs appear. This underlines their promising role in predicting hepatic steatosis, although their possible clinical use should be explored in more detail.”

Article reference: Chafino S, Tarancon-Diez L, Hurtado-Gallego J, Flores-Piñas M, Alcolea S, Olveira A, et al. Metabolomics for searching non-invasive biomarkers of metabolic dysfunction-associated steatotic liver disease in youth with vertical HIV. Commun Med. 2025;5:433.