{"id":226200,"date":"2025-09-14T13:03:09","date_gmt":"2025-09-14T13:03:09","guid":{"rendered":"https:\/\/www.europesays.com\/us\/226200\/"},"modified":"2025-09-14T13:03:09","modified_gmt":"2025-09-14T13:03:09","slug":"decoding-risk-how-polygenic-risk-scores-are-reshaping-the-future-of-brain-health","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/us\/226200\/","title":{"rendered":"Decoding Risk: How Polygenic Risk Scores Are Reshaping the Future of Brain Health"},"content":{"rendered":"<p><strong>Key Takeaways:<\/strong><\/p>\n<ul>\n<li><strong>Polygenic Risk Scores (PRS) \u2013 which define a person\u2019s overall genetic risk \u2013 are emerging as a powerful new approach to precision medicine in neurology, providing tools to predict, prevent and personalize care for diseases affecting the brain. <\/strong><\/li>\n<li><strong>Based on hundreds or thousands of tiny variations in their DNA sequence, a PRS can reflect a person\u2019s risk for various conditions, from heart disease to cancer to neurological conditions such as Alzheimer\u2019s disease or stroke.<\/strong><\/li>\n<li><strong>PRS for patients with neurological conditions offers new hope for earlier detection, targeted prevention and possible treatments, including repurposing drugs used for other conditions.<\/strong><\/li>\n<li><strong>Artificial Intelligence (AI) approaches are helping to find additional biological indicators of neurological disease risk that will further enhance the predictive power of individual risk assessment.<\/strong><\/li>\n<\/ul>\n<p><strong>\u00a0<\/strong><\/p>\n<p><strong>BALTIMORE, Sept. 14, 2025 \u2013 <\/strong>More than two decades after the first human genome draft was released, researchers are entering a new era of discovery\u2014one where the vast complexity of the genome is finally being translated into real-world tools for clinical care. One of those tools, the polygenic risk score (PRS)\u2014a person\u2019s overall genetic contribution to disease risk\u2014is poised to reshape diagnosis, treatment and prevention strategies for challenging neurological diseases, according to experts speaking at the Presidential Symposium \u2013 \u201cDecoding Neurological Risk: Transforming Care with Polygenic Risk Scores\u201d \u2013 at the 150th Annual Meeting of the <a href=\"https:\/\/2025.myana.org\/\" target=\"_blank\" rel=\"noopener\">American Neurological Association<\/a> (ANA).<\/p>\n<p>A person\u2019s PRS reflects their genetic predisposition to a disease based on hundreds or thousands of tiny variations in \u201cspelling\u201d or sequence of the 3.2 billion A,T,G,C nucleotide \u201cletters\u201d of their genome. While single-gene mutations can cause rare diseases, most common conditions such as heart disease, diabetes, cancer and neurological disorders like amyotrophic lateral sclerosis (ALS), Alzheimer\u2019s disease and stroke have no single cause, but can be influenced by an individual\u2019s pattern of genetic variations in combination with triggers in lifestyle or environment. These vulnerabilities are reflected in the PRS.<\/p>\n<p>\u201cThis is a tremendously exciting time. We\u2019ve gained so much knowledge from genome-wide association studies of populations and now, with the help of artificial intelligence and better biomarkers, we\u2019re beginning to use that knowledge to understand a person\u2019s individual risk\u2014and act on it,\u201d said Elizabeth Ross, MD, PhD, ANA President, plenary session chair and Nathan Cummings Professor of Neurology and Neuroscience and director of the Center for Neurogenetics, Weill Cornell Medicine, New York. \u201cThe promise of polygenic risk scores isn\u2019t just in prediction\u2014it has the potential to empower clinicians and patients to take meaningful, individualized action before symptoms ever appear.\u201d<\/p>\n<p><strong>AI-Driven PRS Offers New Hope for Preventing Alzheimer\u2019s Before Symptoms Begin<\/strong><\/p>\n<p>The Alzheimer\u2019s disease process begins years, perhaps decades, before a person shows any signs of cognitive issues. It\u2019s a disease that builds silently over years, meaning early risk identification is critical to successful prevention. Using Artificial Intelligence (AI) to combine PRS and multiple types of health information can help patients and physicians identify the most important factors posing a person\u2019s Alzheimer\u2019s risk and track how they change over time.\u00a0<\/p>\n<p>A type of AI called machine learning can help make sense of complex genetic and clinical data, allowing researchers to combine PRS with clinical traits, phenotypes and biological pathways to create a richer, more individualized picture of risk. Knowing their PRS can help motivate a person to reduce their risk.<\/p>\n<p>\u201cIn Alzheimer\u2019s disease, it\u2019s good to know 20 years before memory starts slipping that there are certain things you can do,\u201d said Dr. Ross, who is presenting \u201cDeep PRS: Strategy for Combining PRS and Clinical Data for Individual Neurological Care. \u201cWe&#8217;re entering a new era where we can combine a patient&#8217;s genetic risk with their clinical history and even lifestyle factors to make smarter, more individualized decisions about treatment and prevention.\u201d<\/p>\n<p>For example, doctors can flag aspects in a profile that particularly worsen someone\u2019s Alzheimer\u2019s risk, such as metabolic or cardiovascular indicators, and target those modifiable risk factors early. In addition, these deep learning tools may help to accelerate the pace of clinical trials to find new treatments and improve strategies for individually tailored use of current therapeutics.<\/p>\n<p><strong>Genetic Clues to ALS May Unlock New Treatment Opportunities<\/strong><\/p>\n<p>Researchers have developed a PRS to predict whether a person has an increased risk of ALS, a rapidly progressive, fatal neurodegenerative condition with few effective treatments. The PRS also can help uncover what\u2019s happening in the body as a disease begins, giving researchers clues for developing new treatments.<\/p>\n<p>\u201cThe data seem to be telling us that a broad-spectrum drug may be necessary to address complex diseases like ALS and frontotemporal dementia,\u201d said Bryan Traynor, MD, PhD, who is presenting \u201cUsing Polygenic Risk Scores to Identify Therapies for ALS Description\u201d and is a senior investigator at the National Institute on Aging, Bethesda, Md. \u201cPolygenic risk profiling gives us a powerful, scalable way to translate human genetics into drug discovery.\u201d<\/p>\n<p>His team\u2019s research focuses on people who carry an ALS-linked mutation in the C9orf72 gene, the most common known genetic cause of ALS. People with a higher PRS for ALS tend to develop symptoms earlier, suggesting that additional genetic factors \u2013 beyond that specific gene \u2013 can influence disease timing. Using this insight, his team created a drug-repurposing pipeline that matched gene expression patterns from ALS patients with those altered by drugs approved by the Food and Drug Administration for other conditions.<\/p>\n<p>One unexpected candidate\u2014acamprosate, a drug originally used to treat alcohol dependence\u2014emerged as a potential therapy with strong neuroprotective effects in early research. A clinical trial testing acamprosate in patients with C9orf72-related ALS is expected to begin soon.<\/p>\n<p>\u201cOur findings support a new approach to precision medicine in neurodegeneration\u2014using genetic complexity not as a barrier but as a roadmap for treatment,\u201d he said. \u201cRepurposing drugs is offering new hope for a challenging and deadly disease.\u201d<\/p>\n<p><strong>PRS Scores are Guiding Neurological Disease Research <\/strong><\/p>\n<p>PRS are gaining ground in real-world medicine, especially diabetes, cardiovascular disease and cancer. While PRS are being developed and used in research for neurological conditions, they are not yet commonly used in the clinic, but are driving research.<\/p>\n<p>\u201cPRS can help us identify people who sit in the top few percent of genetic risk years before symptoms appear and guide earlier screening or lifestyle changes,\u201d said Josh Peterson, MD, MPH, who is presenting \u201cCurrent and Future Applications of Polygenic Risk Scores in Human Health\u201d and is director of the Center for Precision Medicine at Vanderbilt University Medical Center, Nashville. \u201cFor example, in the future, a high PRS for atrial fibrillation\u2014a condition that causes the heart to beat too fast and lead to blood clots that are a major cause of stroke\u2014could justify earlier use of heart rhythm monitors.\u201d<\/p>\n<p>Dr. Peterson is discussing early findings from the eMERGE Genomic Risk Assessment and Management Network, a 10-site National Institutes of Health (NIH)-funded consortium linking genomic testing to electronic health records. In its latest phase, eMERGE integrated PRS with traditional risk factors such as family history and lifestyle to create a single, actionable risk report. The goal is to identify patients in the top 2-10% of genetic risk and add that to their patient chart to prompt their doctors to start prevention treatment earlier, whether cholesterol drugs or mammography at a younger age.<\/p>\n<p>PRS are being used to identify people at highest risk for certain neurological conditions to ensure trials include them. For example, studies assessing whether cholesterol and blood pressure treatments can lower the risk of stroke should include those whose PRS shows that they are at a higher risk of ischemic stroke (caused by a blood clot). And those whose PRS shows a high risk for Alzheimer\u2019s disease should be included in trials testing anti-amyloid therapies.<\/p>\n<p>As research progresses, the tools developed through eMERGE may pave the way for applying PRS to neurodegenerative diseases such as Alzheimer\u2019s or Parkinson\u2019s, where early risk detection could affect care.<\/p>\n<p>\u201cWe\u2019re working hard to build polygenic risk scores that work across all ancestries, not just those of European descent,\u201d said Dr. Peterson. \u201cEquitable implementation requires both better models and real-world clinical validation in diverse populations so that genomic medicine benefits everyone.\u201d<\/p>\n<p><strong>Finding New Markers for Assessing Individual Risk <\/strong><\/p>\n<p>A fourth presentation, \u201cAI Sequence Models and Multi-omic Analysis for Decoding Neurological Risk\u201d given by Olga Troyanskaya, PhD, director of Princeton Precision Health, will focus on mapping the complex landscape of neurological disorders using AI and multi-omics integrated modeling. Multi-omics is a field that studies a person\u2019s various biological components, from DNA to the proteins your body is making, to a person\u2019s metabolism. Multi-omics helps researchers identify more accurate disease markers, understand how diseases progress and help guide the way towards new therapies.\u00a0<\/p>\n<p>\u201cIn the future, reviewing your whole genome may be as routine as checking your blood pressure,\u201d said Dr. Ross. \u201cOne day every single one of us will have a whole genome sequence we take to our annual exams, and it will help us make informed decisions to delay or prevent disease.\u201d<\/p>\n<p><strong>\u00a0<\/strong><\/p>\n<p># # #<\/p>\n<p>\u00a0<\/p>\n<p><strong>About the American Neurological Association (ANA)<\/strong><\/p>\n<p>From advances in stroke and dementia to movement disorders and epilepsy, the <a href=\"https:\/\/myana.org\/\" target=\"_blank\" rel=\"noopener\">American Neurological Association<\/a> has been the vanguard of research since 1875 as the premier professional society of academic neurologists and neuroscientists devoted to understanding and treating diseases of the nervous system. Its monthly Annals of Neurology is among the world\u2019s most prestigious medical journals, and the ANA\u2019s Annals of Clinical and Translational Neurology is an online-only, open access journal providing rapid dissemination of high-quality, peer-reviewed research related to all areas of neurology. The acclaimed ANA Annual Meeting draws faculty and trainees from the top academic departments across the U.S. and abroad for groundbreaking research, networking, and career development. For more information, visit <a href=\"http:\/\/www.myana.org\/\" target=\"_blank\" rel=\"noopener\">www.myana.org<\/a> or <a href=\"https:\/\/twitter.com\/TheNewANA1\" target=\"_blank\" rel=\"noopener\">@TheNewANA1<\/a>.<\/p>\n<p><strong>\u00a0<\/strong><\/p>\n<p>\u00a0<\/p>\n<p>\t\t\t\t\t\t\t\t\t\t                                    <script async src=\"https:\/\/platform.twitter.com\/widgets.js\" charset=\"utf-8\"><\/script><\/p>\n","protected":false},"excerpt":{"rendered":"Key Takeaways: Polygenic Risk Scores (PRS) \u2013 which define a person\u2019s overall genetic risk \u2013 are emerging as&hellip;\n","protected":false},"author":3,"featured_media":219861,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[26],"tags":[122324,815,122323,1941,159,67,132,68],"class_list":{"0":"post-226200","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-american-neurological-association-ana","9":"tag-genetics","10":"tag-neurologyhealth-research","11":"tag-newswise","12":"tag-science","13":"tag-united-states","14":"tag-unitedstates","15":"tag-us"},"share_on_mastodon":{"url":"https:\/\/pubeurope.com\/@us\/115202792570133266","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts\/226200","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/comments?post=226200"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts\/226200\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/media\/219861"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/media?parent=226200"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/categories?post=226200"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/tags?post=226200"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}