{"id":26451,"date":"2025-09-16T15:18:32","date_gmt":"2025-09-16T13:18:32","guid":{"rendered":"https:\/\/sano.science\/?p=26451"},"modified":"2025-10-24T15:41:36","modified_gmt":"2025-10-24T13:41:36","slug":"new-study-on-gba1-mutations-in-parkinsons-disease-with-the-contribution-of-luca-gherardini-sano","status":"publish","type":"post","link":"https:\/\/sano.science\/new-study-on-gba1-mutations-in-parkinsons-disease-with-the-contribution-of-luca-gherardini-sano\/","title":{"rendered":"Luca Gherardini among the authors of a study on AI and Parkinson\u2019s disease genetics"},"content":{"rendered":"\n<h2 class=\"wp-block-heading eplus-wrapper\" id=\"h-ai-predicts-gba1-mutations-in-parkinson-s-disease\"><strong>AI predicts GBA1 mutations in Parkinson\u2019s disease\u00a0<\/strong><\/h2>\n\n\n\n<p class=\" eplus-wrapper\">The article <strong>&#8220;Artificial Intelligence Predicts GBA1 Mutated Status in Parkinson&#8217;s Disease Patients&#8221;<\/strong>, co-authored by <a href=\"https:\/\/sano.science\/people\/luca-gherardini\/\">Luca Gherardini<\/a><strong> (PhD Student in the Computational Intelligence Team, Sano)<\/strong>, presents an innovative approach using artificial intelligence to predict <strong>GBA1 mutations<\/strong> in Parkinson\u2019s disease patients. The study explores how machine learning models can leverage clinical and demographic data to support early identification of genetic risk factors in PD.\u00a0<\/p>\n\n\n\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer eplus-wrapper\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading eplus-wrapper\" id=\"h-about-gba1-and-parkinson-s-disease-understanding-the-genetic-risk\">About GBA1 and Parkinson\u2019s Disease: Understanding the Genetic Risk\u00a0<\/h2>\n\n\n\n<p class=\" eplus-wrapper\"><strong>GBA1<\/strong> is one of the major genetic risk factors for Parkinson\u2019s disease, contributing to <strong>5\u201330% of PD cases<\/strong>, depending on the population and age at onset. Accurate assessment of a patient\u2019s GBA1 status is critical, as it can inform <strong>personalized treatment strategies<\/strong> and guide <strong>targeted genetic screening<\/strong>, helping clinicians identify patients at higher risk and plan appropriate interventions.&nbsp;<\/p>\n\n\n\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer eplus-wrapper\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading eplus-wrapper\" id=\"h-machine-learning-approach-leveraging-clinical-features-for-prediction\">Machine Learning Approach: Leveraging Clinical Features for Prediction\u00a0<\/h2>\n\n\n\n<p class=\" eplus-wrapper\">The researchers developed a <strong>machine learning model<\/strong> based on <strong>five key clinical features<\/strong>, selected for their high predictive value:\u00a0<\/p>\n\n\n<ul class=\"wp-block-list eplus-wrapper eplus-styles-uid-16dc8f\">\n<li class=\" eplus-wrapper\"><strong>Family history<\/strong> \u2013 a strong indicator of inherited risk\u00a0<\/li>\n<\/ul>\n\n<ul class=\"wp-block-list eplus-wrapper eplus-styles-uid-c4f91e\">\n<li class=\" eplus-wrapper\"><strong>Cognitive test scores<\/strong> (MDS-UPDRS 1.1) \u2013 measuring cognitive function\u00a0<\/li>\n<\/ul>\n\n<ul class=\"wp-block-list eplus-wrapper eplus-styles-uid-185c5a\">\n<li class=\" eplus-wrapper\"><strong>Motor impairment scores<\/strong> (MDS-UPDRS 3.8a, 3.8b, and rigidity subscore) \u2013 capturing motor deficits typical in PD\u00a0<\/li>\n<\/ul>\n\n\n<p class=\" eplus-wrapper\">The model achieved <strong>73% overall accuracy<\/strong>, reaching <strong>94%<\/strong> in patients with high SHAP confidence levels, demonstrating the potential of AI to <strong>assist clinicians in pre-test estimation of genetic risk<\/strong>. This approach highlights the efficiency of using targeted clinical data to make actionable predictions in real-world healthcare settings.&nbsp;<\/p>\n\n\n\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer eplus-wrapper\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading eplus-wrapper\" id=\"h-impact-toward-ai-enhanced-personalized-care-in-parkinson-s-disease\">Impact: Toward AI-Enhanced Personalized Care in Parkinson\u2019s Disease\u00a0<\/h2>\n\n\n<ul class=\"wp-block-list eplus-wrapper eplus-styles-uid-17cf74\"><\/ul>\n\n\n<p class=\" eplus-wrapper\">This study emphasizes the potential of <strong>AI-driven predictive models<\/strong> to support <strong>targeted genetic screening<\/strong>, particularly in clinical environments with limited resources. By combining clinical data with machine learning, researchers are paving the way for <strong>data-driven, personalized approaches<\/strong> in Parkinson\u2019s care, which may improve patient outcomes and optimize resource allocation.&nbsp;<\/p>\n\n\n\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer eplus-wrapper\"><\/div>\n\n\n<div class=\"wp-block-columns eplus-wrapper is-layout-flex wp-container-core-columns-is-layout-9d6595d7 wp-block-columns-is-layout-flex eplus-styles-uid-0d3d81\">\n<div class=\"wp-block-column eplus-wrapper is-layout-flow wp-block-column-is-layout-flow\">\n<figure class=\"wp-block-image size-full eplus-wrapper\"><img loading=\"lazy\" decoding=\"async\" width=\"594\" height=\"792\" src=\"https:\/\/sano.science\/wp-content\/uploads\/2025\/09\/Movement-Disorders-Clinical-Practice.jpg\" alt=\"\" class=\"wp-image-26465\" srcset=\"https:\/\/sano.science\/wp-content\/uploads\/2025\/09\/Movement-Disorders-Clinical-Practice.jpg 594w, https:\/\/sano.science\/wp-content\/uploads\/2025\/09\/Movement-Disorders-Clinical-Practice-225x300.jpg 225w\" sizes=\"auto, (max-width: 594px) 100vw, 594px\" \/><\/figure>\n\n\n\n<p class=\" eplus-wrapper\">Source: <a href=\"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mdc3.70334\">movementdisorders.onlinelibrary.wiley.com<\/a><\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-column eplus-wrapper is-layout-flow wp-block-column-is-layout-flow\"><\/div>\n\n\n\n<div class=\"wp-block-column eplus-wrapper is-layout-flow wp-block-column-is-layout-flow\"><\/div>\n<\/div>","protected":false},"excerpt":"AI predicts GBA1 mutations in Parkinson\u2019s disease\u00a0 The article &#8220;Artificial Intelligence Predicts GBA1 Mutated Status in Parkinson&#8217;s Disease Patients&#8221;, co-authored by Luca Gherardini (PhD Student in the Computational Intelligence Team, Sano), presents an innovative approach using artificial intelligence to predict GBA1 mutations in Parkinson\u2019s disease patients. The study explores how machine learning models can leverage [&hellip;]","author":8,"featured_media":26465,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"inline_featured_image":false,"editor_plus_post_options":"{}","editor_plus_copied_stylings":"{}","footnotes":""},"categories":[1],"tags":[],"class_list":["post-26451","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v27.3 (Yoast SEO v27.3) - https:\/\/yoast.com\/product\/yoast-seo-premium-wordpress\/ -->\n<title>Luca Gherardini among the authors of a study on AI and Parkinson\u2019s disease genetics - Centre for Computational Personalized Medicine<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/sano.science\/new-study-on-gba1-mutations-in-parkinsons-disease-with-the-contribution-of-luca-gherardini-sano\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Luca Gherardini among the authors of a study on AI and Parkinson\u2019s disease genetics\" \/>\n<meta property=\"og:description\" content=\"AI predicts GBA1 mutations in Parkinson\u2019s disease\u00a0 The article &#8220;Artificial Intelligence Predicts GBA1 Mutated Status in Parkinson&#8217;s Disease Patients&#8221;, co-authored by Luca Gherardini (PhD Student in the Computational Intelligence Team, Sano), presents an innovative approach using artificial intelligence to predict GBA1 mutations in Parkinson\u2019s disease patients. The study explores how machine learning models can leverage [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/sano.science\/new-study-on-gba1-mutations-in-parkinsons-disease-with-the-contribution-of-luca-gherardini-sano\/\" \/>\n<meta property=\"og:site_name\" content=\"Centre for Computational Personalized Medicine\" \/>\n<meta property=\"article:publisher\" content=\"https:\/\/www.facebook.com\/sano.science\/\" \/>\n<meta property=\"article:published_time\" content=\"2025-09-16T13:18:32+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2025-10-24T13:41:36+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/sano.science\/wp-content\/uploads\/2025\/09\/Movement-Disorders-Clinical-Practice.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"594\" \/>\n\t<meta property=\"og:image:height\" content=\"792\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"Sano\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@sanoscience\" \/>\n<meta name=\"twitter:site\" content=\"@sanoscience\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"Sano\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"2 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/sano.science\\\/new-study-on-gba1-mutations-in-parkinsons-disease-with-the-contribution-of-luca-gherardini-sano\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/sano.science\\\/new-study-on-gba1-mutations-in-parkinsons-disease-with-the-contribution-of-luca-gherardini-sano\\\/\"},\"author\":{\"name\":\"Sano\",\"@id\":\"https:\\\/\\\/sano.science\\\/#\\\/schema\\\/person\\\/561b69b48b6a8f7904aed06df5d03c98\"},\"headline\":\"Luca Gherardini among the authors of a study on AI and Parkinson\u2019s disease genetics\",\"datePublished\":\"2025-09-16T13:18:32+00:00\",\"dateModified\":\"2025-10-24T13:41:36+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/sano.science\\\/new-study-on-gba1-mutations-in-parkinsons-disease-with-the-contribution-of-luca-gherardini-sano\\\/\"},\"wordCount\":325,\"publisher\":{\"@id\":\"https:\\\/\\\/sano.science\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/sano.science\\\/new-study-on-gba1-mutations-in-parkinsons-disease-with-the-contribution-of-luca-gherardini-sano\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/sano.science\\\/wp-content\\\/uploads\\\/2025\\\/09\\\/Movement-Disorders-Clinical-Practice.jpg\",\"inLanguage\":\"en-US\"},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/sano.science\\\/new-study-on-gba1-mutations-in-parkinsons-disease-with-the-contribution-of-luca-gherardini-sano\\\/\",\"url\":\"https:\\\/\\\/sano.science\\\/new-study-on-gba1-mutations-in-parkinsons-disease-with-the-contribution-of-luca-gherardini-sano\\\/\",\"name\":\"Luca Gherardini among the authors of a study on AI and Parkinson\u2019s disease genetics - 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The study explores how machine learning models can leverage clinical and demographic data to support early identification of genetic risk factors in PD.\u00a0<\/p>\n","innerContent":["\n<p class=\" eplus-wrapper\">The article <strong>\"Artificial Intelligence Predicts GBA1 Mutated Status in Parkinson's Disease Patients\"<\/strong>, co-authored by <a href=\"https:\/\/sano.science\/people\/luca-gherardini\/\">Luca Gherardini<\/a><strong> (PhD Student in the Computational Intelligence Team, Sano)<\/strong>, presents an innovative approach using artificial intelligence to predict <strong>GBA1 mutations<\/strong> in Parkinson\u2019s disease patients. 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Accurate assessment of a patient\u2019s GBA1 status is critical, as it can inform <strong>personalized treatment strategies<\/strong> and guide <strong>targeted genetic screening<\/strong>, helping clinicians identify patients at higher risk and plan appropriate interventions.&nbsp;<\/p>\n","innerContent":["\n<p class=\" eplus-wrapper\"><strong>GBA1<\/strong> is one of the major genetic risk factors for Parkinson\u2019s disease, contributing to <strong>5\u201330% of PD cases<\/strong>, depending on the population and age at onset. Accurate assessment of a patient\u2019s GBA1 status is critical, as it can inform <strong>personalized treatment strategies<\/strong> and guide <strong>targeted genetic screening<\/strong>, helping clinicians identify patients at higher risk and plan appropriate interventions.&nbsp;<\/p>\n"]},{"blockName":"core\/spacer","attrs":{"height":"30px","epAnimationGeneratedClass":"edplus_anim-WD0SRy","epGeneratedClass":"eplus-wrapper"},"innerBlocks":[],"innerHTML":"\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer eplus-wrapper\"><\/div>\n","innerContent":["\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer eplus-wrapper\"><\/div>\n"]},{"blockName":"core\/heading","attrs":{"epAnimationGeneratedClass":"edplus_anim-URxcKA","epGeneratedClass":"eplus-wrapper"},"innerBlocks":[],"innerHTML":"\n<h2 class=\"wp-block-heading eplus-wrapper\" id=\"h-machine-learning-approach-leveraging-clinical-features-for-prediction\">Machine Learning Approach: Leveraging Clinical Features for Prediction\u00a0<\/h2>\n","innerContent":["\n<h2 class=\"wp-block-heading eplus-wrapper\" id=\"h-machine-learning-approach-leveraging-clinical-features-for-prediction\">Machine Learning Approach: Leveraging Clinical Features for Prediction\u00a0<\/h2>\n"]},{"blockName":"core\/paragraph","attrs":{"epAnimationGeneratedClass":"edplus_anim-6aP5Np","epGeneratedClass":"eplus-wrapper"},"innerBlocks":[],"innerHTML":"\n<p class=\" eplus-wrapper\">The researchers developed a <strong>machine learning model<\/strong> based on <strong>five key clinical features<\/strong>, selected for their high predictive value:\u00a0<\/p>\n","innerContent":["\n<p class=\" eplus-wrapper\">The researchers developed a <strong>machine learning model<\/strong> based on <strong>five key clinical features<\/strong>, selected for their high predictive 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By combining clinical data with machine learning, researchers are paving the way for <strong>data-driven, personalized approaches<\/strong> in Parkinson\u2019s care, which may improve patient outcomes and optimize resource allocation.&nbsp;<\/p>\n"]},{"blockName":"core\/spacer","attrs":{"height":"30px","epAnimationGeneratedClass":"edplus_anim-WD0SRy","epGeneratedClass":"eplus-wrapper"},"innerBlocks":[],"innerHTML":"\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer eplus-wrapper\"><\/div>\n","innerContent":["\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer eplus-wrapper\"><\/div>\n"]},{"blockName":"core\/columns","attrs":{"epStylingOptions":{"epCustomColumnsResponsiveEnabled":true,"epCustomColumnsReverseResponsiveEnabled":true,"epCustomColumnsSpacingResponsiveEnabled":true,"epCustomColumns":{"target":"wp-block-column","responsive":true,"hover":false,"options":[{"custom":true,"control":"ColumnToggle"},{"label":"Responsive 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