{"id":29537,"date":"2026-06-16T16:43:22","date_gmt":"2026-06-16T14:43:22","guid":{"rendered":"https:\/\/opentalk.iit.it\/?p=29537"},"modified":"2026-06-16T16:45:48","modified_gmt":"2026-06-16T14:45:48","slug":"genomics-improves-diagnosis-of-neurodevelopmental-disorders-in-valle-daosta","status":"publish","type":"post","link":"https:\/\/opentalk.iit.it\/en\/genomics-improves-diagnosis-of-neurodevelopmental-disorders-in-valle-daosta\/","title":{"rendered":"Genomics improves diagnosis of neurodevelopmental disorders in Valle d\u2019Aosta"},"content":{"rendered":"<h4 style=\"font-weight: 400;\"><strong>The findings expand current knowledge of the genetic causes of neurodevelopmental disorders, such as autism and intellectual disability, highlighting the importance of whole-genome sequencing as a useful tool in clinical practice<\/strong><\/h4>\n<p><!--more--><\/p>\n<p style=\"font-weight: 400;\">A collaborative study between the Center for Clinical and Computational Genomics (C3G) of the Italian Institute of Technology (IIT) in Aosta and the regional health authority Azienda USL della Valle d\u2019Aosta used whole-genome sequencing to examine the genetic makeup of 110 children from Valle d\u2019Aosta with neurodevelopmental disorders and their parents. In a number of cases, researchers identified DNA variants that may be responsible for the children&#8217;s condition. Published in the international scientific journal NPJ Genomic Medicine, the study is the first of its kind in Italy and provided genetic diagnoses for 29 families whose cases had previously remained without answers regarding the causes of the disorder. The findings advance our understanding of the genetic basis of these complex conditions and contribute to the broader efforts of the international scientific community.<\/p>\n<p style=\"font-weight: 400;\">Neurodevelopmental disorders include a broad range of conditions, including autism spectrum disorders and intellectual disabilities. In Italy, they affect approximately 1% of children between the ages of 7 and 9. These conditions are often difficult to diagnose and treat because symptoms vary significantly from one individual to another. Molecular and biological investigations can help identify some of the underlying causes, guiding diagnostic and treatment pathways. It is within this context that the IIT study was conducted.<\/p>\n<p style=\"font-weight: 400;\">The research team involved in the study 110 families from Valle d\u2019Aosta, for a total of 300 individuals. By analyzing the complete genomes of young people already diagnosed with autism and those of their parents, researchers aimed to identify genetic variants associated with their conditions.<\/p>\n<p style=\"font-weight: 400;\">The study began in May 2022 as part of the 5000genomi@VdA project and included three groups of participants to capture the broad spectrum of conditions typically associated with neurodevelopmental disorders. Among the participants, 40 young people had autism spectrum disorder without additional disabilities, most of whom displayed characteristics associated with high functioning autism. 27 participants had received a diagnosis of intellectual disability, with difficulties managing certain aspects of daily life independently. The remaining participants had been diagnosed with both autism spectrum disorder and intellectual disability, experiencing difficulties in social interaction as well as cognitive impairments.<\/p>\n<p style=\"font-weight: 400;\">Genome analysis generated a total of approximately <strong>26 million genetic variants<\/strong>, from which the research team extracted information relevant both to clinical practice and to future research initiatives.<\/p>\n<p style=\"font-weight: 400;\">Using artificial intelligence algorithms, the researchers were able to identify variants in genes directly involved in neurodevelopmental disorders, providing answers in specific cases. For <strong>29 families<\/strong>, it was possible to establish a genetic diagnosis linking the condition to DNA variants and to provide information regarding their inheritance patterns.<\/p>\n<p style=\"font-weight: 400;\"><em>&#8220;<\/em> <em>One of the most meaningful results of this study was that we were able to provide long-awaited answers to many families by identifying the genetic cause of their condition. In addition to improving our understanding of genetic risk, these diagnoses can help inform care decisions and follow-up planning.&#8221;<\/em> commented <strong>Dr. Laure Obino, Director of the Struttura Complessa (SC) di Neuropsichiatria Infantile (NPI) in the Azienda USL della Valle d&#8217;Aosta<\/strong> (Complex Structure of child neuropsychiatry at the regional health authority).<\/p>\n<p style=\"font-weight: 400;\">Beyond its direct impact on diagnosis, the research team also identified, among the 26 million variants analyzed, several alterations in genes not previously associated with neurodevelopmental disorders. For example, in a patient with autism and motor difficulties, the researchers identified a mutation in the KALRN gene, which plays an important role in the development of neurons and their connections. Based on this finding, the team believes that this gene could be added to the list of those associated with neurodevelopmental disorders.<\/p>\n<p style=\"font-weight: 400;\"><em>&#8220;We are extremely proud of this collaboration between IIT&#8217;s C3G and the AUSL Valle d\u2019Aosta, which has produced results of real clinical and scientific importance. It demonstrates the impact that advanced genomics can have in clinical practice, helping make healthcare more personalized, predictive, and better aligned with patients&#8217; needs&#8221;<\/em> said <strong>Stefano Gustincich, Director of the Center for Clinical and Computational Genomics at IIT in Aosta<\/strong>.<\/p>\n<p style=\"font-weight: 400;\">The newly identified genes and genetic variants could help reassess patients whose previous genetic tests did not lead to a diagnosis, while also improving the accuracy of future diagnoses of neurodevelopmental disorders.<\/p>\n<hr \/>\n<p style=\"font-weight: 400;\">Link to the article: <a href=\"https:\/\/www.nature.com\/articles\/s41525-025-00547-8\">https:\/\/www.nature.com\/articles\/s41525-025-00547-8<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>The findings expand current knowledge of the genetic causes of neurodevelopmental disorders, such as autism and intellectual disability, highlighting the importance of whole-genome sequencing as a useful tool in clinical practice<\/p>\n","protected":false},"author":5,"featured_media":29538,"comment_status":"closed","ping_status":"closed","sticky":true,"template":"","format":"standard","meta":{"footnotes":""},"categories":[5104,4552,5039,4709],"tags":[8262,8274],"class_list":["post-29537","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-life-science-en","category-en-news","category-news-en","category-press-release-2","tag-center_for_clinical_and_computational_genomics_iit","tag-stefano_gustincich_iit"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.7 - 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