A study with more than 1,500 patients analyses genetics in neurodevelopmental disorders
MÉS INFORMACIÓ
A study with more than 1,500 patients analyses genetics in neurodevelopmental disorders
The CESPED project, coordinated by HUIPM and IRB CatSud, has a budget of €1.7 million funded by the Instituto de Salud Carlos III
The study explores tools to help psychiatrists identify patients with a possible genetic basis
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.
In 2025, the Institut d’Investigació Sanitària Pere Virgili (IISPV) celebrates 20 years of promoting research in health and biomedicine across the region. With more than 600 professionals and 38 research groups, the institute has become a key reference in transferring scientific knowledge to clinical practice. Years after its foundation, it continues working to improve the health and well-being of the population.
We use cookies on our website to give you the most relevant experience by remembering your preferences and repeat visits. By clicking “Accept All”, you consent to the use of ALL the cookies. However, you may visit "Cookie Settings" to provide a controlled consent.
This website uses cookies to improve your experience while you navigate through the website. Out of these, the cookies that are categorized as necessary are stored on your browser as they are essential for the working of basic functionalities of the website. We also use third-party cookies that help us analyze and understand how you use this website. These cookies will be stored in your browser only with your consent. You also have the option to opt-out of these cookies. But opting out of some of these cookies may affect your browsing experience.
Necessary cookies are absolutely essential for the website to function properly. These cookies ensure basic functionalities and security features of the website, anonymously.
Functional cookies help to perform certain functionalities like sharing the content of the website on social media platforms, collect feedbacks, and other third-party features.
Performance cookies are used to understand and analyze the key performance indexes of the website which helps in delivering a better user experience for the visitors.
Analytical cookies are used to understand how visitors interact with the website. These cookies help provide information on metrics the number of visitors, bounce rate, traffic source, etc.
Advertisement cookies are used to provide visitors with relevant ads and marketing campaigns. These cookies track visitors across websites and collect information to provide customized ads.
Facebook 
Mail 
WhatsApp 
