{"id":114252,"date":"2026-05-29T08:03:46","date_gmt":"2026-05-29T07:03:46","guid":{"rendered":"https:\/\/www.iispv.cat\/a-study-with-more-than-1500-patients-analyses-genetics-in-neurodevelopmental-disorders\/"},"modified":"2026-05-29T10:47:51","modified_gmt":"2026-05-29T09:47:51","slug":"a-study-with-more-than-1500-patients-analyses-genetics-in-neurodevelopmental-disorders","status":"publish","type":"post","link":"https:\/\/www.iispv.cat\/en\/a-study-with-more-than-1500-patients-analyses-genetics-in-neurodevelopmental-disorders\/","title":{"rendered":"A study with more than 1,500 patients analyses genetics in neurodevelopmental disorders"},"content":{"rendered":"<ul>\n \t<li><strong>\u00a0<\/strong>The CESPED project, coordinated by HUIPM and IRB CatSud, has a budget of \u20ac1.7 million funded by the Instituto de Salud Carlos III<\/li>\n \t<li>The study explores tools to help psychiatrists identify patients with a possible genetic basis<\/li>\n<\/ul>\nA 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 Biom\u00e8dica Catalunya Sud (IRB CatSud, formerly IISPV). The project has a budget of \u20ac1.7 million funded by the Instituto de Salud Carlos III (ISCIII) through the European Union\u2019s 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.\n\nAt 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 \u201cthe first results suggest that the frequency of these genetic variants in Spain is around 3%, similar to what has been reported in other countries\u201d.\n\nThe 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.\n\nThe 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.\n\nFor 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.\n\n<strong>The sample<\/strong>\n\nThe 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.\n\nDifferent 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.\n\n\n\n<em>Este proyecto est\u00e1 financiado por el Instituto de Salud Carlos III (ISCIII), la Uni\u00f3n Europea-NextGenerationEU y el Plan de Recuperaci\u00f3n Transformaci\u00f3n y Resiliencia (PRTR), con el c\u00f3digo PMP22\/00088.<\/em>\n\n \n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"832\" height=\"98\" class=\"wp-image-114273\" src=\"https:\/\/www.iispv.cat\/wp-content\/uploads\/2026\/05\/image.png\" alt=\"\" srcset=\"https:\/\/www.iispv.cat\/wp-content\/uploads\/2026\/05\/image.png 832w, https:\/\/www.iispv.cat\/wp-content\/uploads\/2026\/05\/image-300x35.png 300w, https:\/\/www.iispv.cat\/wp-content\/uploads\/2026\/05\/image-768x90.png 768w\" sizes=\"auto, (max-width: 832px) 100vw, 832px\" \/><\/figure>\n","protected":false},"excerpt":{"rendered":"<p>\u00a0The CESPED project, coordinated by HUIPM and IRB CatSud, has a budget of \u20ac1.7 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 [&hellip;]<\/p>\n","protected":false},"author":36,"featured_media":114242,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1883,1026,1831,1478,1479,2092],"tags":[2981,2980,2979,2982,2392,2358,2804,2786],"class_list":["post-114252","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-actualitat-en","category-noticies-iispv-en","category-press-releases","category-publicacions-en","category-recerca-en","category-temes-de-salut-en","tag-a-study-with-more-than-1500-patients-analyses-genetics-in-neurodevelopmental-disorders","tag-cesped-project","tag-cibersam-en","tag-genetics","tag-hospital-universitari-institut-pere-mata-en","tag-instituto-de-salud-carlos-iii-en","tag-irb-catsud-en","tag-isciii-en"],"_links":{"self":[{"href":"https:\/\/www.iispv.cat\/en\/wp-json\/wp\/v2\/posts\/114252","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.iispv.cat\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.iispv.cat\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.iispv.cat\/en\/wp-json\/wp\/v2\/users\/36"}],"replies":[{"embeddable":true,"href":"https:\/\/www.iispv.cat\/en\/wp-json\/wp\/v2\/comments?post=114252"}],"version-history":[{"count":1,"href":"https:\/\/www.iispv.cat\/en\/wp-json\/wp\/v2\/posts\/114252\/revisions"}],"predecessor-version":[{"id":114278,"href":"https:\/\/www.iispv.cat\/en\/wp-json\/wp\/v2\/posts\/114252\/revisions\/114278"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.iispv.cat\/en\/wp-json\/wp\/v2\/media\/114242"}],"wp:attachment":[{"href":"https:\/\/www.iispv.cat\/en\/wp-json\/wp\/v2\/media?parent=114252"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.iispv.cat\/en\/wp-json\/wp\/v2\/categories?post=114252"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.iispv.cat\/en\/wp-json\/wp\/v2\/tags?post=114252"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}