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id="page-container" class="page-layout__main page-layout__main--default page-layout__main--conditions" tabindex="-1"><div class="custom-page-content-layout"><article class="fact-sheet-details"><div class="fact-sheet-details__details-container"><div class="fact-sheet-details__sidebar-container"><div class=""><header><div class="fact-sheet-details-sidebar__image-container"><figure class="hero-photo"><noscript><img class="hero-photo__image" alt="Two people are supporting a person with a neurogenetics diagnosis." src="https://ysm-res.cloudinary.com/image/upload/ar_16:9,c_fill,dpr_auto,f_auto,g_faces:auto,q_auto:eco,w_0.5/v1/yms/prod/cbca5ae4-e4e2-40ae-9865-7e63bf85cdca"/></noscript></figure></div><div class="fact-sheet-details-sidebar__content-container"><h1 class="fact-sheet-details-sidebar__title">Neurogenetics</h1><div class="fact-sheet-details-sidebar__takeaways-list-container"><ul aria-label="Fact Sheet Takeaways"><li class="fact-sheet-details-takeaways-list__item"><span class="fact-sheet-details-takeaways-list__item-dot">•</span><span class="fact-sheet-details-takeaways-list__item-text">A field of study that attempts to better understand genetic causes of brain disorders</span></li><li class="fact-sheet-details-takeaways-list__item"><span class="fact-sheet-details-takeaways-list__item-dot">•</span><span class="fact-sheet-details-takeaways-list__item-text">For diagnosing and possibly treating diseases with a neurogenetic component</span></li><li class="fact-sheet-details-takeaways-list__item"><span class="fact-sheet-details-takeaways-list__item-dot">•</span><span class="fact-sheet-details-takeaways-list__item-text">Patients can receive whole exome sequencing</span></li><li class="fact-sheet-details-takeaways-list__item"><span class="fact-sheet-details-takeaways-list__item-dot">•</span><span class="fact-sheet-details-takeaways-list__item-text">Involves neurogenetics and neurology</span></li></ul></div><div class="fact-sheet-details-sidebar__keywords-container"><span class="fact-sheet-details-sidebar__keywords-label">Related Terms:</span><div class="fact-sheet-details-sidebar__keywords"><li class="fact-sheet-details-sidebar__clinical-keyword-container"><a href="https://www.yalemedicine.org/clinical-keywords/neurogenetics" class="base-button base-button--link secondary-link secondary-link--bold secondary-link--white fact-sheet-details-sidebar__clinical-keyword-link" tabindex="0" aria-label="Click to read more about Neurogenetics"><span>Neurogenetics</span></a></li></div></div><div class="fact-sheet-details-sidebar__navigation-container" role="navigation" aria-label="Fact Sheet Content Navigation"><ul class="fact-sheet-details-navigation"><li class="fact-sheet-details-navigation__navigation-item"><a href="#" class="fact-sheet-details-navigation__link" aria-label="Link To "Overview""><div class="fact-sheet-details-navigation__dot-container"><span class="fact-sheet-details-navigation__link-dot"></span></div><span class="fact-sheet-details-navigation__section-title">Overview</span></a></li><li class="fact-sheet-details-navigation__navigation-item"><a href="#" class="fact-sheet-details-navigation__link" aria-label="Link To "How has neurogenetics developed as a field of medicine?""><div class="fact-sheet-details-navigation__dot-container"><span class="fact-sheet-details-navigation__link-dot"></span></div><span class="fact-sheet-details-navigation__section-title">How has neurogenetics developed as a field of medicine?</span></a></li><li class="fact-sheet-details-navigation__navigation-item"><a href="#" class="fact-sheet-details-navigation__link" aria-label="Link To "What is the Yale Medicine Neurogenetics Program?""><div class="fact-sheet-details-navigation__dot-container"><span class="fact-sheet-details-navigation__link-dot"></span></div><span class="fact-sheet-details-navigation__section-title">What is the Yale Medicine Neurogenetics Program?</span></a></li><li class="fact-sheet-details-navigation__navigation-item"><a href="#" class="fact-sheet-details-navigation__link" aria-label="Link To "Which research tools are available to scientists and clinicians at Yale Medicine?""><div class="fact-sheet-details-navigation__dot-container"><span class="fact-sheet-details-navigation__link-dot"></span></div><span class="fact-sheet-details-navigation__section-title">Which research tools are available to scientists and clinicians at Yale Medicine?</span></a></li><li class="fact-sheet-details-navigation__navigation-item"><a href="#" class="fact-sheet-details-navigation__link" aria-label="Link To "Which neurological disorders will benefit from the new field of neurogenetics?""><div class="fact-sheet-details-navigation__dot-container"><span class="fact-sheet-details-navigation__link-dot"></span></div><span class="fact-sheet-details-navigation__section-title">Which neurological disorders will benefit from the new field of neurogenetics?</span></a></li><li class="fact-sheet-details-navigation__navigation-item"><a href="#" class="fact-sheet-details-navigation__link" aria-label="Link To "How does the new field of neurogenetics relate to the concept of "personalized medicine?"""><div class="fact-sheet-details-navigation__dot-container"><span class="fact-sheet-details-navigation__link-dot"></span></div><span class="fact-sheet-details-navigation__section-title">How does the new field of neurogenetics relate to the concept of "personalized medicine?"</span></a></li></ul></div></div></header><div class="fact-sheet-details-sidebar__related-content-container"><aside class="fact-sheet-details-sidebar-related-content__container" aria-label="Related Specialists"><div class="section-title fact-sheet-details-sidebar-related-content__title"><div class="section-title__text-wrapper"><h2 class="section-title__text">Related Specialists</h2></div></div><section aria-label="Related Specialist List"><ul class="card-grid card-grid--columns--3"><li class="card-grid__item"><div class="specialist-card specialist-card--view-mode--portrait specialist-card--size-mode--small specialist-card--background-color-mode--dark specialist-card--outline-color-mode--black"><a href="https://www.yalemedicine.org/specialists/anna-szekely" class="specialist-card__wrapper" aria-label="Anna Szekely" data-id="59399"><div class="specialist-card__thumbnail-wrapper"><div class="specialist-card__thumbnail"><div class="responsive-image-wrapper responsive-image-wrapper--ratio-mode--ratio1x1"><noscript><img class="cloudinary-image" alt="" src="https://ysm-res.cloudinary.com/image/upload/ar_1:1,c_fill,dpr_auto,f_auto,g_faces:auto,q_auto:eco,w_0.5/v1/yms/prod/1baffa50-8f2d-4b83-873d-1f377c1ce22b"/></noscript></div></div></div><div class="specialist-card__content-container"><h4 class="specialist-card__name">Anna Szekely</h4><div class="specialist-card__suffixes"><div class="text-overflow undefined" style="-webkit-line-clamp:1">MD</div></div><div class="specialist-card__additional-information"></div></div></a></div></li></ul></section></aside></div></div></div><div class="fact-sheet-details__content-container"><h1 class="fact-sheet-details__title-print">Neurogenetics</h1><div class="fact-sheet-details-content__image-container"><figure class="hero-photo"><noscript><img class="hero-photo__image" alt="Two people are supporting a person with a neurogenetics diagnosis." src="https://ysm-res.cloudinary.com/image/upload/ar_16:9,c_fill,dpr_auto,f_auto,g_faces:auto,q_auto:eco,w_0.5/v1/yms/prod/cbca5ae4-e4e2-40ae-9865-7e63bf85cdca"/></noscript></figure></div><div class="fact-sheet-details-content__content-container"><div class="fact-sheet-details-content__page-tools-container"><ul class="page-tools-custom-panel"><li class="page-tools-custom-panel__item"><button type="button" class="base-button page-tools-action-button page-tools-action-button--black page-tools-action-button--default" tabindex="0" aria-label="Print page"><span class="page-tools-action-button__content"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 24 24" focusable="false" class="page-tools-action-button__icon"><path d="M7.5 19.499h9M7.5 16.499h9M5.5 16.5h-3a2.006 2.006 0 0 1-2-2v-6a2.006 2.006 0 0 1 2-2h19a2.006 2.006 0 0 1 2 2v6a2.006 2.006 0 0 1-2 2h-3M5.5 4.5v-4h9.586a1 1 0 0 1 .707.293l2.414 2.414a1 1 0 0 1 .293.707V4.5" style="fill:none;stroke:currentColor;stroke-linecap:round;stroke-linejoin:round"></path><path d="M18.5 22.5a1 1 0 0 1-1 1h-11a1 1 0 0 1-1-1v-9h13Z" style="fill:none;stroke:currentColor;stroke-linecap:round;stroke-linejoin:round"></path><circle cx="3.5" cy="9.499" r="1" style="fill:none;stroke:currentColor;stroke-linecap:round;stroke-linejoin:round"></circle><path d="M14.5.499v4h4" style="fill:none;stroke:currentColor;stroke-linecap:round;stroke-linejoin:round"></path></svg><span class="page-tools-action-button__title">Print</span></span></button></li><li class="page-tools-custom-panel__item"><button type="button" class="base-button page-tools-action-button page-tools-action-button--black page-tools-action-button--default" tabindex="0" aria-label="Share page"><span class="page-tools-action-button__content"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 24 24" focusable="false" class="page-tools-action-button__icon"><path d="M12 13.499v-13M7.5 4.999l4.5-4.5 4.5 4.5M15 8.5h4a1 1 0 0 1 1 1v13a1 1 0 0 1-1 1H5a1 1 0 0 1-1-1v-13a1 1 0 0 1 1-1h4" style="fill:none;stroke:currentColor;stroke-linecap:round;stroke-linejoin:round"></path></svg><span class="page-tools-action-button__title">Share</span></span></button></li></ul></div><div class="fact-sheet-details-content__sections-container"><section class="fact-sheet-details-content-sections" aria-label="Fact Sheet Content"><div class="fact-sheet-details-content-sections__content-section-container"><section class="fact-sheet-details-content-section" aria-label="Overview"><div class="section-title fact-sheet-details-content-section__content-title"><div class="section-title__text-wrapper"><h2 class="section-title__text fact-sheet-details-content-section__content-heading fact-sheet-details-content-section__section-0-title" tabindex="-1"><span class="fact-sheet-details-content-section__title-html-text">Overview</span></h2></div></div><div class="fact-sheet-details-content-section__content"><p>Many autoimmune diseases including Alzheimer's disease, ALS, multiple sclerosis, and others have genetic underpinnings. What if scientists could figure out which genetic factors are responsible for their illness? </p><p>Neurogenetics is a new field of scientific research that uses recent advances in genome sequencing in order to better understand the cause of brain and nerve disorders. The <a data-ym-type="department" target="_self" href="https://www.yalemedicine.org/departments/neurogenetics">Yale Medicine Neurogenetics Program</a> offers whole exome sequencing, an affordable and efficient technique of pinpointing genetic factors of inherited disease. That can help patients determine the extent to which their genetic material plays a role in their condition.</p><p>Neurogenetics is also helping to advance the concept of personalized clinical care. With a comprehensive understanding of a patient’s genetic profile and medical history, physicians can create highly tailored treatment programs for each patient. For example, a cancer patient can now receive genome analysis of the specific mutations within a tumor. Based on those results, doctors can then assess whether cancer medications (which can be highly toxic) will even work before administering the drug.</p></div></section></div><div class="fact-sheet-details-content-sections__content-section-container"><section class="fact-sheet-details-content-section" aria-label="How has neurogenetics developed as a field of medicine?"><div class="section-title fact-sheet-details-content-section__content-title"><div class="section-title__text-wrapper"><h2 class="section-title__text fact-sheet-details-content-section__content-heading fact-sheet-details-content-section__section-1-title" tabindex="-1"><span class="fact-sheet-details-content-section__title-html-text">How has neurogenetics developed as a field of medicine?</span></h2></div></div><div class="fact-sheet-details-content-section__content"><p>The Human Genome Project—a global effort to map each gene in the human body—represented a major breakthrough when it was completed in 2003. Then scientists developed whole exome sequencing, which looks just at the small portion of DNA that is usually responsible for genetic diseases, which made the tool more affordable and practical.</p><p>Today, researchers can study the DNA of hundreds of patients with a given condition to search for patterns that may exist in their genomes. Thanks to those and other advancements, the field of neurogenetics has already successfully identified genes related to the development of Alzheimer’s, Parkinson’s, Huntington’s, and Multiple Sclerosis.</p></div></section></div><div class="fact-sheet-details-content-sections__content-section-container"><section class="fact-sheet-details-content-section" aria-label="What is the Yale Medicine Neurogenetics Program?"><div class="section-title fact-sheet-details-content-section__content-title"><div class="section-title__text-wrapper"><h2 class="section-title__text fact-sheet-details-content-section__content-heading fact-sheet-details-content-section__section-2-title" tabindex="-1"><span class="fact-sheet-details-content-section__title-html-text">What is the Yale Medicine Neurogenetics Program?</span></h2></div></div><div class="fact-sheet-details-content-section__content"><p>Not every neurological diagnosis is straightforward. For example, some patients might exhibit the characteristic tremors and motor control issues of Parkinson’s disease, but they also might have other symptoms, such as memory problems, which are not common in Parkinson's patients.</p><p>In these difficult-to-diagnose cases, patients are often referred to Yale Medicine, where they receive a more precise diagnosis.</p><p>Physicians at the Neurogenetics Program treat adult and pediatric patients. Among adults, most of the patients treated have some kind of neurodegenerative disease or genetic form of epilepsy. Among children, the most commonly treated patients have some kind of mental development delay or autism spectrum disorder.</p></div></section></div><div class="fact-sheet-details-content-sections__content-section-container"><section class="fact-sheet-details-content-section" aria-label="Which research tools are available to scientists and clinicians at Yale Medicine?"><div class="section-title fact-sheet-details-content-section__content-title"><div class="section-title__text-wrapper"><h2 class="section-title__text fact-sheet-details-content-section__content-heading fact-sheet-details-content-section__section-3-title" tabindex="-1"><span class="fact-sheet-details-content-section__title-html-text">Which research tools are available to scientists and clinicians at Yale Medicine?</span></h2></div></div><div class="fact-sheet-details-content-section__content"><p>Yale Medicine’s Center of Genomic Analysis is part of a select group called the Consortium for Mendelian Genomics, which is at the forefront of next-generation genetic sequencing work. Patients treated there will benefit from very sophisticated tools and analysis.</p><p>For example, some patients—adults and children—have disease related to their mitochondria, the tiny structures inside cells that function as “energy factories” for the body. Mitochondria have their own DNA, which is completely distinct from the famous “double helix” DNA that makes up each person’s chromosomes.</p><p>The brain and nervous system require a lot of energy, so any abnormalities in the mitochondria could lead to brain and muscle diseases. Physicians can screen for mitochondrial defects and traditional genetic mutations.</p><p>In addition, if genetic abnormalities are not immediately obvious, your doctor can conduct genetic sequencing of family members. For example, by analyzing the genetic profile of a child with autism and both of his parents, physicians can hunt for patterns that might contribute to the disorder.</p><p>This information might help young parents decide if they want to have another child. Alternatively, clinicians may be able to refer patients to an appropriate clinical trial, where they can access new treatments that have not yet been approved for the general patient population.</p></div></section></div><div class="fact-sheet-details-content-sections__content-section-container"><section class="fact-sheet-details-content-section" aria-label="Which neurological disorders will benefit from the new field of neurogenetics?"><div class="section-title fact-sheet-details-content-section__content-title"><div class="section-title__text-wrapper"><h2 class="section-title__text fact-sheet-details-content-section__content-heading fact-sheet-details-content-section__section-4-title" tabindex="-1"><span class="fact-sheet-details-content-section__title-html-text">Which neurological disorders will benefit from the new field of neurogenetics?</span></h2></div></div><div class="fact-sheet-details-content-section__content"><p>Patients treated will have access to experimental new treatments that might benefit their condition. “My duty is not only to offer the most comprehensive evaluation of the most difficult to treat patients, but also to connect these patients to the latest clinical trials and treatment modalities,” says neurologist <a data-ym-type="specialist" target="_self" href="https://www.yalemedicine.org/specialists/anna-szekely">Anna Szekely, MD.</a> Patients can also volunteer their genetic information for scientific research. Collectively, hundreds of genetic profiles help scientists cross-compare abnormalities and contribute to advancements in drug and treatment research. </p></div></section></div><div class="fact-sheet-details-content-sections__content-section-container"><section class="fact-sheet-details-content-section" aria-label="How does the new field of neurogenetics relate to the concept of "personalized medicine?""><div class="section-title fact-sheet-details-content-section__content-title"><div class="section-title__text-wrapper"><h2 class="section-title__text fact-sheet-details-content-section__content-heading fact-sheet-details-content-section__section-5-title" tabindex="-1"><span class="fact-sheet-details-content-section__title-html-text">How does the new field of neurogenetics relate to the concept of "personalized medicine?"</span></h2></div></div><div class="fact-sheet-details-content-section__content"><p>Personalized medicine is the idea that each person’s treatment should be specifically tailored to his or her medical history and genetic profile.</p><p>Now, as researchers continue to search for breakthrough cures for most neurological conditions, genomic sequencing can help physicians choose the best drugs or therapies to address symptoms, and customize a treatment plan based on forecasts about disease progression.</p></div></section></div></section></div></div></div></div><div class="fact-sheet-details__related-content-container"><div class="fact-sheet-details-related-content"><aside class="fact-sheet-details-related-content__container" aria-label="Related Clinical Trials"><div class="section-title card-grid-title"><div class="section-title__text-wrapper"><h2 class="section-title__text card-grid-title__text">Related Clinical Trials</h2></div><div class="section-title__payload card-grid-title__payload"><span class="card-grid-title__count-text">Showing 2 of 3</span></div></div><ul class="card-grid card-grid--columns--1"><li class="card-grid__item"><a 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Haven","region":"CT","country":null,"postalCode":"06510"}},"mainComponents":[{"key":"FactSheetDetails","isHeadingGroupComponent":false,"model":{"title":"Neurogenetics","newsletterSignUpUrl":null,"heroImage":{"caption":"","credit":null,"url":"https://ysm-res.cloudinary.com/image/upload/v1/yms/prod/cbca5ae4-e4e2-40ae-9865-7e63bf85cdca","title":"group","altText":"Two people are supporting a person with a neurogenetics diagnosis.","imageVariants":null},"departmentAppointment":null,"takeaways":["A field of study that attempts to better understand genetic causes of brain disorders","For diagnosing and possibly treating diseases with a neurogenetic component","Patients can receive whole exome sequencing","Involves neurogenetics and neurology"],"contentSections":[{"title":"Overview","plainTextTitle":"Overview","content":"<p>Many autoimmune diseases including Alzheimer's disease, ALS, multiple sclerosis, and others have genetic underpinnings. What if scientists could figure out which genetic factors are responsible for their illness? </p><p>Neurogenetics is a new field of scientific research that uses recent advances in genome sequencing in order to better understand the cause of brain and nerve disorders. The <a data-ym-type=\"department\" target=\"_self\" href=\"https://www.yalemedicine.org/departments/neurogenetics\">Yale Medicine Neurogenetics Program</a> offers whole exome sequencing, an affordable and efficient technique of pinpointing genetic factors of inherited disease. That can help patients determine the extent to which their genetic material plays a role in their condition.</p><p>Neurogenetics is also helping to advance the concept of personalized clinical care. With a comprehensive understanding of a patient’s genetic profile and medical history, physicians can create highly tailored treatment programs for each patient. For example, a cancer patient can now receive genome analysis of the specific mutations within a tumor. Based on those results, doctors can then assess whether cancer medications (which can be highly toxic) will even work before administering the drug.</p>","ctaLink":null},{"title":"How has neurogenetics developed as a field of medicine?","plainTextTitle":"How has neurogenetics developed as a field of medicine?","content":"<p>The Human Genome Project—a global effort to map each gene in the human body—represented a major breakthrough when it was completed in 2003. Then scientists developed whole exome sequencing, which looks just at the small portion of DNA that is usually responsible for genetic diseases, which made the tool more affordable and practical.</p><p>Today, researchers can study the DNA of hundreds of patients with a given condition to search for patterns that may exist in their genomes. Thanks to those and other advancements, the field of neurogenetics has already successfully identified genes related to the development of Alzheimer’s, Parkinson’s, Huntington’s, and Multiple Sclerosis.</p>","ctaLink":null},{"title":"What is the Yale Medicine Neurogenetics Program?","plainTextTitle":"What is the Yale Medicine Neurogenetics Program?","content":"<p>Not every neurological diagnosis is straightforward. For example, some patients might exhibit the characteristic tremors and motor control issues of Parkinson’s disease, but they also might have other symptoms, such as memory problems, which are not common in Parkinson's patients.</p><p>In these difficult-to-diagnose cases, patients are often referred to Yale Medicine, where they receive a more precise diagnosis.</p><p>Physicians at the Neurogenetics Program treat adult and pediatric patients. Among adults, most of the patients treated have some kind of neurodegenerative disease or genetic form of epilepsy. Among children, the most commonly treated patients have some kind of mental development delay or autism spectrum disorder.</p>","ctaLink":null},{"title":"Which research tools are available to scientists and clinicians at Yale Medicine?","plainTextTitle":"Which research tools are available to scientists and clinicians at Yale Medicine?","content":"<p>Yale Medicine’s Center of Genomic Analysis is part of a select group called the Consortium for Mendelian Genomics, which is at the forefront of next-generation genetic sequencing work. Patients treated there will benefit from very sophisticated tools and analysis.</p><p>For example, some patients—adults and children—have disease related to their mitochondria, the tiny structures inside cells that function as “energy factories” for the body. Mitochondria have their own DNA, which is completely distinct from the famous “double helix” DNA that makes up each person’s chromosomes.</p><p>The brain and nervous system require a lot of energy, so any abnormalities in the mitochondria could lead to brain and muscle diseases. Physicians can screen for mitochondrial defects and traditional genetic mutations.</p><p>In addition, if genetic abnormalities are not immediately obvious, your doctor can conduct genetic sequencing of family members. For example, by analyzing the genetic profile of a child with autism and both of his parents, physicians can hunt for patterns that might contribute to the disorder.</p><p>This information might help young parents decide if they want to have another child. Alternatively, clinicians may be able to refer patients to an appropriate clinical trial, where they can access new treatments that have not yet been approved for the general patient population.</p>","ctaLink":null},{"title":"Which neurological disorders will benefit from the new field of neurogenetics?","plainTextTitle":"Which neurological disorders will benefit from the new field of neurogenetics?","content":"<p>Patients treated will have access to experimental new treatments that might benefit their condition. “My duty is not only to offer the most comprehensive evaluation of the most difficult to treat patients, but also to connect these patients to the latest clinical trials and treatment modalities,” says neurologist <a data-ym-type=\"specialist\" target=\"_self\" href=\"https://www.yalemedicine.org/specialists/anna-szekely\">Anna Szekely, MD.</a> Patients can also volunteer their genetic information for scientific research. Collectively, hundreds of genetic profiles help scientists cross-compare abnormalities and contribute to advancements in drug and treatment research. </p>","ctaLink":null},{"title":"How does the new field of neurogenetics relate to the concept of \"personalized medicine?\"","plainTextTitle":"How does the new field of neurogenetics relate to the concept of \"personalized medicine?\"","content":"<p>Personalized medicine is the idea that each person’s treatment should be specifically tailored to his or her medical history and genetic profile.</p><p>Now, as researchers continue to search for breakthrough cures for most neurological conditions, genomic sequencing can help physicians choose the best drugs or therapies to address symptoms, and customize a treatment plan based on forecasts about disease progression.</p>","ctaLink":null}],"relatedContent":{"relatedFactSheets":null,"relatedSpecialists":{"title":null,"items":[{"pageName":"anna-szekely","image":{"url":"https://ysm-res.cloudinary.com/image/upload/v1/yms/prod/1baffa50-8f2d-4b83-873d-1f377c1ce22b","title":null,"altText":null,"imageVariants":[]},"contacts":{"type":"general","phone":{"phoneNumber":"+18779253637","extension":null},"isReferralParagraphHidden":false},"appointment":{"isTelehealthAvailable":true,"telehealthLinkUrl":"/patient-tools/telehealth","appointmentUrl":null,"myChartUrl":"/patient-tools/access-mychart","appointmentDates":[]},"specialties":["Neurology","Genetics","Movement Disorders","Memory Disorders & Cognitive Neurology","Pediatric Genetics","Clinical Genetics"],"isAvailableForAppointments":true,"isCareCenterPhoneUsed":true,"score":"0","biography":null,"physicianSummary":"","hasVideo":false,"leadershipTitle":null,"id":59399,"name":"Anna 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