/ en Thu, 05 Feb 26 14:20:35 -0500 /rare-disease-day <span class="field field--name-title field--type-string field--label-hidden"><h1>Rare Disease Day</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Maria Nemchuk</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2026-02-05T14:20:35-05:00" title="Thursday, February 5, 2026 - 14:20" class="datetime">February 5, 2026</time> </span> <div class="hero-section hero-section_image-bottom container"> <div class="hero-section__row row"> <div class="hero-section__content col-8 offset-2"> <div class="hero-section__breadcrumbs"> <div class="block block-layout-builder block-extra-field-blocknodesection-pagebreadcrumbs"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodesection-pagetitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Rare Disease Day</h1> </span> </div> </div> </div> </div> </div> <div class="content-section content-section_with-sidebars container"> <div class="row"> <div class="content-section__main col-8 offset-2"> <div class="block block-layout-builder block-field-blocknodesection-pagebody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p>Rare Disease Day is an international event held in late February to raise awareness about the impact on patients and need for research.</p> <p>Rare genetic diseases are collectively common: they affect 1 in 10 people in North America. While more than 8,000 genes are known to drive these diseases, fewer than 500 have an available treatment. The mismatch in these numbers underscores the urgent need to disrupt the status quo and develop new approaches to deliver precision cures at scale.</p> <p><a class="ck-anchor" id="2024"> </a></p> <h2>Rare Disease Day 2026 | Advancing Neurodegenerative Disease Research</h2> <h3>Wednesday, February 25, 1:30 - 5 pm EST</h3> <p style="display:none;"><a target="_blank" href="#"><strong>Learn more and register</strong></a></p> <div class="floatright" style="display:none;width:45%;"> <div> </div> <p> </p> <p><a style="display:none;" href="/files/shared/images/2024RareDiseaseSeminar.pdf"><img style="width:100%;" alt src="/files/shared/images/RDD-2024.png"></a><br><em><span style="display:none;float:left;">Click to</span></em><a href="/files/shared/images/2024RareDiseaseSeminar.pdf"><em><span style="display:none;float:left;"> view the 2024 agenda</span></em></a><em><span style="display:none;float:left;">.</span></em></p> </div> <p>This year, the Ó³»­´«Ã½â€™s Ladders to Cures Scientific Accelerator in collaboration with The Termeer Institute are hosting the <a target="_blank" href="https://broad.io/RDD2026">11th Annual Rare Disease Day Event: Advancing Neurodegenerative Disease Research</a>, featuring remarks from <strong>Anna Greka</strong>, <strong>Belinda Termeer</strong>, and <strong>Catharine Smith</strong>, in addition to a lineup of speakers from the rare disease space including <strong>Mandana Arbab</strong>, <strong>Hilary Eaton</strong>, <strong>Kasper Roet</strong>, <strong>Juliana Gentile</strong>, <strong>Dan Leonard</strong>, and <strong>Allyson Berent</strong>.</p> <p><strong>Ó³»­´«Ã½</strong> is committed to uncovering the genetic roots of rare diseases and to using those insights to develop new treatments. With projects spanning multiple disease areas, Ó³»­´«Ã½ scientists are using genetics, functional genomics, computational biology, and chemical biology to better understand and ultimately seek effective treatments for rare diseases.</p> <p>Building on the bold legacy of Henri Termeer, who pioneered groundbreaking treatments for rare diseases, <strong>The Termeer Foundation</strong> is a nonprofit organization working to connect the world of healthcare innovators until every patient has a cure.</p> <p><em>If you have any questions regarding the event or an accessibility request, please reach out to Katie Liguori at </em><a href="mailto:kliguori@broadinstitute.org"><em>kliguori@broadinstitute.org</em></a><em>.</em></p> <p dir="ltr"> </p> <h2><a class="ck-anchor" id="past"></a>Past Focus on Rare Disease events</h2> <p><iframe frameborder="0" height="315" width="560" src="https://www.youtube.com/embed/videoseries?list=PLlMMtlgw6qNgTyJnvQvY-Zkt26eRLL9nm" title="YouTube video player" allowfullscreen allow="accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture"> </iframe></p> <ul> <li data-list-item-id="e4b02ee25ad0f4f4903a49dd2388b60f2">2026: <a target="_blank" href="https://www.ladders2cures.org/events/11th-annual-rare-disease-day-event-advancing-neurodegenerative-disease-research">Advancing Neurodegenerative Disease Research</a></li> <li data-list-item-id="e79b37543a86363dbcabb9e2efcecd0da">2025: <a target="_blank" href="https://www.ladders2cures.org/events/10th-annual-rare-disease-day-event-an-era-of-innovation-for-rare-diseases">An Era of Innovation for Rare Diseases</a></li> <li data-list-item-id="e82d462222db05dff3decd31276bf53fa">2024: <a href="/files/shared/images/2024RareDiseaseSeminar.pdf">Climbing Ladders to Cures in Rare Disease Research</a></li> <li data-list-item-id="e95e30f4324b81435ce44767dd38ded2a">2023: <a href="/files/images/2023RareDiseaseSeminar.pdf">Patients as Partners</a></li> <li data-list-item-id="e3f036df643540dfd3dcbb8608ec55475">2022: <a href="/files/shared/images/2022RareDiseaseSeminar.pdf">Spotlight on Cancer</a></li> <li data-list-item-id="eeedc6fee723a178342d5d08d83170a41">2021: <a href="/files/shared/images/2021RareDiseaseSeminar.pdf">Prime time–gene therapy for rare disorders</a></li> <li data-list-item-id="e2592234d9db5ef071ddd7a555270df20">2020: <a href="/files/shared/images/2020RareDiseaseSeminar.pdf">Putting patients in the driver's seat.</a></li> <li data-list-item-id="ef9b4ba53119c7ab413f07b0cb7cb31df">2019: <a href="/files/shared/images/2019RareDiseaseSeminar.pdf">Decoding genomes, unlocking therapies</a></li> <li data-list-item-id="e8a37e4d6d7319874f12831532bbf3b5c">2018: <a href="/files/shared/images/2018RareDiseaseSeminar.pdf">New hope for kidney diseases</a></li> <li data-list-item-id="e1a249737df6d5c7ca721e945ba78bd92">2017: <a href="/files/shared/images/2017RareDiseaseSeminar.pdf">Solving the genomic puzzle</a></li> <li data-list-item-id="e63324458085be6d06c05f2455166b759">2016: <a href="/files/shared/images/2016RareDiseaseSeminar.pdf">From patients to genes, and from genes to treatments</a></li> </ul> <p><a class="ck-anchor" id="vgt"></a> </p> <h2>Virtual Gallery Tour</h2> <p><a target="_blank" href="https://artspaces.kunstmatrix.com/en/exhibition/3961633/artfully-rare?t=1613498119">View a Beyond the Diagnosis virtual gallery tour here.</a></p> <p style="display:none;" dir="ltr">The <em>Beyond the Diagnosis</em> exhibit is on view to Ó³»­´«Ã½ies in the Ted and Vada Stanley Building lobby, 75 Ames Street, Cambridge. </p> <style type="text/css">tr { border-bottom-style:none!important; } td { vertical-align:top; } .time { width:30%; font-weight:600; } .talk { font-weight:600; } </style></div> </div> </div> <div class="content-section__right col-2"> <div class="block block-ctools block-entity-viewnode"> <article about="/rare-disease-day" class="node node--type-section-page node--promoted node--view-mode-sidebar"> <div class="node__content"> <div class="sidebar-group"> <div class="sidebar-group__title"> <div class="block block-layout-builder block-field-blocknodesection-pagefield-gsp-title-links"> <div class="clearfix text-formatted field field--name-field-gsp-title-links field--type-text field--label-hidden field__item"><p>Related</p> </div> </div> </div> <div class="sidebar-group__content"> <div class="block block-layout-builder block-field-blocknodesection-pagefield-gsp-links"> <div class="field field--name-field-gsp-links field--type-link field--label-hidden field__items"> <div class="field__item"><a href="/blog/putting-face-rare-disease">Putting a face on rare disease</a></div> <div class="field__item"><a href="/podcast/rare-disease-research-inspired-patient-care-anna-greka">Rare disease research inspired by patient care, with Anna Greka</a></div> <div class="field__item"><a href="https://youtu.be/Mq2VK_DuBuU">Beyond the Diagnosis video</a></div> </div> </div> </div> </div> <div class="sidebar-group"> <div class="sidebar-group__content"> <div class="block block-layout-builder block-field-blocknodesection-pagefield-gsp-extra-info"> <div class="clearfix text-formatted field field--name-field-gsp-extra-info field--type-text-long field--label-hidden field__item"><h2 style="color:#0f6db7;padding-top:11px;">Rare Disease Day 2026</h2> <ul> <li style="display:none;" data-list-item-id="e444db12c1a1a6df0f4a388ca0034e277"><a target="_blank" href="#">Register</a></li> <li data-list-item-id="e66d58e874ba598a28a053ce37e7aa663"><a href="#past">Past Focus on Rare Disease Events</a></li> <li data-list-item-id="e86ff18455e41d79e925ab657a762ceff"><a href="#vgt">Virtual Gallery Tour</a></li> </ul> </div> </div> </div> </div> </div> </article> </div> </div> </div> </div> Thu, 05 Feb 2026 19:20:35 +0000 mnemchuk@broadinstitute.org 460961 at /news/new-ai-model-could-speed-rare-disease-diagnosis <span class="field field--name-title field--type-string field--label-hidden"><h1>Rare Disease Day</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Maria Nemchuk</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2026-02-05T14:20:35-05:00" title="Thursday, February 5, 2026 - 14:20" class="datetime">February 5, 2026</time> </span> <div class="hero-section hero-section_image-bottom container"> <div class="hero-section__row row"> <div class="hero-section__content col-8 offset-2"> <div class="hero-section__breadcrumbs"> <div class="block block-layout-builder block-extra-field-blocknodesection-pagebreadcrumbs"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodesection-pagetitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Rare Disease Day</h1> </span> </div> </div> </div> </div> </div> <div class="content-section content-section_with-sidebars container"> <div class="row"> <div class="content-section__main col-8 offset-2"> <div class="block block-layout-builder block-field-blocknodesection-pagebody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p>Rare Disease Day is an international event held in late February to raise awareness about the impact on patients and need for research.</p> <p>Rare genetic diseases are collectively common: they affect 1 in 10 people in North America. While more than 8,000 genes are known to drive these diseases, fewer than 500 have an available treatment. The mismatch in these numbers underscores the urgent need to disrupt the status quo and develop new approaches to deliver precision cures at scale.</p> <p><a class="ck-anchor" id="2024"> </a></p> <h2>Rare Disease Day 2026 | Advancing Neurodegenerative Disease Research</h2> <h3>Wednesday, February 25, 1:30 - 5 pm EST</h3> <p style="display:none;"><a target="_blank" href="#"><strong>Learn more and register</strong></a></p> <div class="floatright" style="display:none;width:45%;"> <div> </div> <p> </p> <p><a style="display:none;" href="/files/shared/images/2024RareDiseaseSeminar.pdf"><img style="width:100%;" alt src="/files/shared/images/RDD-2024.png"></a><br><em><span style="display:none;float:left;">Click to</span></em><a href="/files/shared/images/2024RareDiseaseSeminar.pdf"><em><span style="display:none;float:left;"> view the 2024 agenda</span></em></a><em><span style="display:none;float:left;">.</span></em></p> </div> <p>This year, the Ó³»­´«Ã½â€™s Ladders to Cures Scientific Accelerator in collaboration with The Termeer Institute are hosting the <a target="_blank" href="https://broad.io/RDD2026">11th Annual Rare Disease Day Event: Advancing Neurodegenerative Disease Research</a>, featuring remarks from <strong>Anna Greka</strong>, <strong>Belinda Termeer</strong>, and <strong>Catharine Smith</strong>, in addition to a lineup of speakers from the rare disease space including <strong>Mandana Arbab</strong>, <strong>Hilary Eaton</strong>, <strong>Kasper Roet</strong>, <strong>Juliana Gentile</strong>, <strong>Dan Leonard</strong>, and <strong>Allyson Berent</strong>.</p> <p><strong>Ó³»­´«Ã½</strong> is committed to uncovering the genetic roots of rare diseases and to using those insights to develop new treatments. With projects spanning multiple disease areas, Ó³»­´«Ã½ scientists are using genetics, functional genomics, computational biology, and chemical biology to better understand and ultimately seek effective treatments for rare diseases.</p> <p>Building on the bold legacy of Henri Termeer, who pioneered groundbreaking treatments for rare diseases, <strong>The Termeer Foundation</strong> is a nonprofit organization working to connect the world of healthcare innovators until every patient has a cure.</p> <p><em>If you have any questions regarding the event or an accessibility request, please reach out to Katie Liguori at </em><a href="mailto:kliguori@broadinstitute.org"><em>kliguori@broadinstitute.org</em></a><em>.</em></p> <p dir="ltr"> </p> <h2><a class="ck-anchor" id="past"></a>Past Focus on Rare Disease events</h2> <p><iframe frameborder="0" height="315" width="560" src="https://www.youtube.com/embed/videoseries?list=PLlMMtlgw6qNgTyJnvQvY-Zkt26eRLL9nm" title="YouTube video player" allowfullscreen allow="accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture"> </iframe></p> <ul> <li data-list-item-id="e4b02ee25ad0f4f4903a49dd2388b60f2">2026: <a target="_blank" href="https://www.ladders2cures.org/events/11th-annual-rare-disease-day-event-advancing-neurodegenerative-disease-research">Advancing Neurodegenerative Disease Research</a></li> <li data-list-item-id="e79b37543a86363dbcabb9e2efcecd0da">2025: <a target="_blank" href="https://www.ladders2cures.org/events/10th-annual-rare-disease-day-event-an-era-of-innovation-for-rare-diseases">An Era of Innovation for Rare Diseases</a></li> <li data-list-item-id="e82d462222db05dff3decd31276bf53fa">2024: <a href="/files/shared/images/2024RareDiseaseSeminar.pdf">Climbing Ladders to Cures in Rare Disease Research</a></li> <li data-list-item-id="e95e30f4324b81435ce44767dd38ded2a">2023: <a href="/files/images/2023RareDiseaseSeminar.pdf">Patients as Partners</a></li> <li data-list-item-id="e3f036df643540dfd3dcbb8608ec55475">2022: <a href="/files/shared/images/2022RareDiseaseSeminar.pdf">Spotlight on Cancer</a></li> <li data-list-item-id="eeedc6fee723a178342d5d08d83170a41">2021: <a href="/files/shared/images/2021RareDiseaseSeminar.pdf">Prime time–gene therapy for rare disorders</a></li> <li data-list-item-id="e2592234d9db5ef071ddd7a555270df20">2020: <a href="/files/shared/images/2020RareDiseaseSeminar.pdf">Putting patients in the driver's seat.</a></li> <li data-list-item-id="ef9b4ba53119c7ab413f07b0cb7cb31df">2019: <a href="/files/shared/images/2019RareDiseaseSeminar.pdf">Decoding genomes, unlocking therapies</a></li> <li data-list-item-id="e8a37e4d6d7319874f12831532bbf3b5c">2018: <a href="/files/shared/images/2018RareDiseaseSeminar.pdf">New hope for kidney diseases</a></li> <li data-list-item-id="e1a249737df6d5c7ca721e945ba78bd92">2017: <a href="/files/shared/images/2017RareDiseaseSeminar.pdf">Solving the genomic puzzle</a></li> <li data-list-item-id="e63324458085be6d06c05f2455166b759">2016: <a href="/files/shared/images/2016RareDiseaseSeminar.pdf">From patients to genes, and from genes to treatments</a></li> </ul> <p><a class="ck-anchor" id="vgt"></a> </p> <h2>Virtual Gallery Tour</h2> <p><a target="_blank" href="https://artspaces.kunstmatrix.com/en/exhibition/3961633/artfully-rare?t=1613498119">View a Beyond the Diagnosis virtual gallery tour here.</a></p> <p style="display:none;" dir="ltr">The <em>Beyond the Diagnosis</em> exhibit is on view to Ó³»­´«Ã½ies in the Ted and Vada Stanley Building lobby, 75 Ames Street, Cambridge. </p> <style type="text/css">tr { border-bottom-style:none!important; } td { vertical-align:top; } .time { width:30%; font-weight:600; } .talk { font-weight:600; } </style></div> </div> </div> <div class="content-section__right col-2"> <div class="block block-ctools block-entity-viewnode"> <article about="/rare-disease-day" class="node node--type-section-page node--promoted node--view-mode-sidebar"> <div class="node__content"> <div class="sidebar-group"> <div class="sidebar-group__title"> <div class="block block-layout-builder block-field-blocknodesection-pagefield-gsp-title-links"> <div class="clearfix text-formatted field field--name-field-gsp-title-links field--type-text field--label-hidden field__item"><p>Related</p> </div> </div> </div> <div class="sidebar-group__content"> <div class="block block-layout-builder block-field-blocknodesection-pagefield-gsp-links"> <div class="field field--name-field-gsp-links field--type-link field--label-hidden field__items"> <div class="field__item"><a href="/blog/putting-face-rare-disease">Putting a face on rare disease</a></div> <div class="field__item"><a href="/podcast/rare-disease-research-inspired-patient-care-anna-greka">Rare disease research inspired by patient care, with Anna Greka</a></div> <div class="field__item"><a href="https://youtu.be/Mq2VK_DuBuU">Beyond the Diagnosis video</a></div> </div> </div> </div> </div> <div class="sidebar-group"> <div class="sidebar-group__content"> <div class="block block-layout-builder block-field-blocknodesection-pagefield-gsp-extra-info"> <div class="clearfix text-formatted field field--name-field-gsp-extra-info field--type-text-long field--label-hidden field__item"><h2 style="color:#0f6db7;padding-top:11px;">Rare Disease Day 2026</h2> <ul> <li style="display:none;" data-list-item-id="e444db12c1a1a6df0f4a388ca0034e277"><a target="_blank" href="#">Register</a></li> <li data-list-item-id="e66d58e874ba598a28a053ce37e7aa663"><a href="#past">Past Focus on Rare Disease Events</a></li> <li data-list-item-id="e86ff18455e41d79e925ab657a762ceff"><a href="#vgt">Virtual Gallery Tour</a></li> </ul> </div> </div> </div> </div> </div> </article> </div> </div> </div> </div> Mon, 24 Nov 2025 19:42:27 +0000 Corie Lok 5559751 at /news/prime-editing-treats-childhood-brain-disease-mice <span class="field field--name-title field--type-string field--label-hidden"><h1>Rare Disease Day</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Maria Nemchuk</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2026-02-05T14:20:35-05:00" title="Thursday, February 5, 2026 - 14:20" class="datetime">February 5, 2026</time> </span> <div class="hero-section hero-section_image-bottom container"> <div class="hero-section__row row"> <div class="hero-section__content col-8 offset-2"> <div class="hero-section__breadcrumbs"> <div class="block block-layout-builder block-extra-field-blocknodesection-pagebreadcrumbs"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodesection-pagetitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Rare Disease Day</h1> </span> </div> </div> </div> </div> </div> <div class="content-section content-section_with-sidebars container"> <div class="row"> <div class="content-section__main col-8 offset-2"> <div class="block block-layout-builder block-field-blocknodesection-pagebody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p>Rare Disease Day is an international event held in late February to raise awareness about the impact on patients and need for research.</p> <p>Rare genetic diseases are collectively common: they affect 1 in 10 people in North America. While more than 8,000 genes are known to drive these diseases, fewer than 500 have an available treatment. The mismatch in these numbers underscores the urgent need to disrupt the status quo and develop new approaches to deliver precision cures at scale.</p> <p><a class="ck-anchor" id="2024"> </a></p> <h2>Rare Disease Day 2026 | Advancing Neurodegenerative Disease Research</h2> <h3>Wednesday, February 25, 1:30 - 5 pm EST</h3> <p style="display:none;"><a target="_blank" href="#"><strong>Learn more and register</strong></a></p> <div class="floatright" style="display:none;width:45%;"> <div> </div> <p> </p> <p><a style="display:none;" href="/files/shared/images/2024RareDiseaseSeminar.pdf"><img style="width:100%;" alt src="/files/shared/images/RDD-2024.png"></a><br><em><span style="display:none;float:left;">Click to</span></em><a href="/files/shared/images/2024RareDiseaseSeminar.pdf"><em><span style="display:none;float:left;"> view the 2024 agenda</span></em></a><em><span style="display:none;float:left;">.</span></em></p> </div> <p>This year, the Ó³»­´«Ã½â€™s Ladders to Cures Scientific Accelerator in collaboration with The Termeer Institute are hosting the <a target="_blank" href="https://broad.io/RDD2026">11th Annual Rare Disease Day Event: Advancing Neurodegenerative Disease Research</a>, featuring remarks from <strong>Anna Greka</strong>, <strong>Belinda Termeer</strong>, and <strong>Catharine Smith</strong>, in addition to a lineup of speakers from the rare disease space including <strong>Mandana Arbab</strong>, <strong>Hilary Eaton</strong>, <strong>Kasper Roet</strong>, <strong>Juliana Gentile</strong>, <strong>Dan Leonard</strong>, and <strong>Allyson Berent</strong>.</p> <p><strong>Ó³»­´«Ã½</strong> is committed to uncovering the genetic roots of rare diseases and to using those insights to develop new treatments. With projects spanning multiple disease areas, Ó³»­´«Ã½ scientists are using genetics, functional genomics, computational biology, and chemical biology to better understand and ultimately seek effective treatments for rare diseases.</p> <p>Building on the bold legacy of Henri Termeer, who pioneered groundbreaking treatments for rare diseases, <strong>The Termeer Foundation</strong> is a nonprofit organization working to connect the world of healthcare innovators until every patient has a cure.</p> <p><em>If you have any questions regarding the event or an accessibility request, please reach out to Katie Liguori at </em><a href="mailto:kliguori@broadinstitute.org"><em>kliguori@broadinstitute.org</em></a><em>.</em></p> <p dir="ltr"> </p> <h2><a class="ck-anchor" id="past"></a>Past Focus on Rare Disease events</h2> <p><iframe frameborder="0" height="315" width="560" src="https://www.youtube.com/embed/videoseries?list=PLlMMtlgw6qNgTyJnvQvY-Zkt26eRLL9nm" title="YouTube video player" allowfullscreen allow="accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture"> </iframe></p> <ul> <li data-list-item-id="e4b02ee25ad0f4f4903a49dd2388b60f2">2026: <a target="_blank" href="https://www.ladders2cures.org/events/11th-annual-rare-disease-day-event-advancing-neurodegenerative-disease-research">Advancing Neurodegenerative Disease Research</a></li> <li data-list-item-id="e79b37543a86363dbcabb9e2efcecd0da">2025: <a target="_blank" href="https://www.ladders2cures.org/events/10th-annual-rare-disease-day-event-an-era-of-innovation-for-rare-diseases">An Era of Innovation for Rare Diseases</a></li> <li data-list-item-id="e82d462222db05dff3decd31276bf53fa">2024: <a href="/files/shared/images/2024RareDiseaseSeminar.pdf">Climbing Ladders to Cures in Rare Disease Research</a></li> <li data-list-item-id="e95e30f4324b81435ce44767dd38ded2a">2023: <a href="/files/images/2023RareDiseaseSeminar.pdf">Patients as Partners</a></li> <li data-list-item-id="e3f036df643540dfd3dcbb8608ec55475">2022: <a href="/files/shared/images/2022RareDiseaseSeminar.pdf">Spotlight on Cancer</a></li> <li data-list-item-id="eeedc6fee723a178342d5d08d83170a41">2021: <a href="/files/shared/images/2021RareDiseaseSeminar.pdf">Prime time–gene therapy for rare disorders</a></li> <li data-list-item-id="e2592234d9db5ef071ddd7a555270df20">2020: <a href="/files/shared/images/2020RareDiseaseSeminar.pdf">Putting patients in the driver's seat.</a></li> <li data-list-item-id="ef9b4ba53119c7ab413f07b0cb7cb31df">2019: <a href="/files/shared/images/2019RareDiseaseSeminar.pdf">Decoding genomes, unlocking therapies</a></li> <li data-list-item-id="e8a37e4d6d7319874f12831532bbf3b5c">2018: <a href="/files/shared/images/2018RareDiseaseSeminar.pdf">New hope for kidney diseases</a></li> <li data-list-item-id="e1a249737df6d5c7ca721e945ba78bd92">2017: <a href="/files/shared/images/2017RareDiseaseSeminar.pdf">Solving the genomic puzzle</a></li> <li data-list-item-id="e63324458085be6d06c05f2455166b759">2016: <a href="/files/shared/images/2016RareDiseaseSeminar.pdf">From patients to genes, and from genes to treatments</a></li> </ul> <p><a class="ck-anchor" id="vgt"></a> </p> <h2>Virtual Gallery Tour</h2> <p><a target="_blank" href="https://artspaces.kunstmatrix.com/en/exhibition/3961633/artfully-rare?t=1613498119">View a Beyond the Diagnosis virtual gallery tour here.</a></p> <p style="display:none;" dir="ltr">The <em>Beyond the Diagnosis</em> exhibit is on view to Ó³»­´«Ã½ies in the Ted and Vada Stanley Building lobby, 75 Ames Street, Cambridge. </p> <style type="text/css">tr { border-bottom-style:none!important; } td { vertical-align:top; } .time { width:30%; font-weight:600; } .talk { font-weight:600; } </style></div> </div> </div> <div class="content-section__right col-2"> <div class="block block-ctools block-entity-viewnode"> <article about="/rare-disease-day" class="node node--type-section-page node--promoted node--view-mode-sidebar"> <div class="node__content"> <div class="sidebar-group"> <div class="sidebar-group__title"> <div class="block block-layout-builder block-field-blocknodesection-pagefield-gsp-title-links"> <div class="clearfix text-formatted field field--name-field-gsp-title-links field--type-text field--label-hidden field__item"><p>Related</p> </div> </div> </div> <div class="sidebar-group__content"> <div class="block block-layout-builder block-field-blocknodesection-pagefield-gsp-links"> <div class="field field--name-field-gsp-links field--type-link field--label-hidden field__items"> <div class="field__item"><a href="/blog/putting-face-rare-disease">Putting a face on rare disease</a></div> <div class="field__item"><a href="/podcast/rare-disease-research-inspired-patient-care-anna-greka">Rare disease research inspired by patient care, with Anna Greka</a></div> <div class="field__item"><a href="https://youtu.be/Mq2VK_DuBuU">Beyond the Diagnosis video</a></div> </div> </div> </div> </div> <div class="sidebar-group"> <div class="sidebar-group__content"> <div class="block block-layout-builder block-field-blocknodesection-pagefield-gsp-extra-info"> <div class="clearfix text-formatted field field--name-field-gsp-extra-info field--type-text-long field--label-hidden field__item"><h2 style="color:#0f6db7;padding-top:11px;">Rare Disease Day 2026</h2> <ul> <li style="display:none;" data-list-item-id="e444db12c1a1a6df0f4a388ca0034e277"><a target="_blank" href="#">Register</a></li> <li data-list-item-id="e66d58e874ba598a28a053ce37e7aa663"><a href="#past">Past Focus on Rare Disease Events</a></li> <li data-list-item-id="e86ff18455e41d79e925ab657a762ceff"><a href="#vgt">Virtual Gallery Tour</a></li> </ul> </div> </div> </div> </div> </div> </article> </div> </div> </div> </div> Mon, 21 Jul 2025 15:37:05 +0000 Corie Lok 5559001 at /news/count-me-launches-new-patient-partnered-research-project-translocation-renal-cell-carcinoma <span class="field field--name-title field--type-string field--label-hidden"><h1>Rare Disease Day</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Maria Nemchuk</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2026-02-05T14:20:35-05:00" title="Thursday, February 5, 2026 - 14:20" class="datetime">February 5, 2026</time> </span> <div class="hero-section hero-section_image-bottom container"> <div class="hero-section__row row"> <div class="hero-section__content col-8 offset-2"> <div class="hero-section__breadcrumbs"> <div class="block block-layout-builder block-extra-field-blocknodesection-pagebreadcrumbs"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodesection-pagetitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Rare Disease Day</h1> </span> </div> </div> </div> </div> </div> <div class="content-section content-section_with-sidebars container"> <div class="row"> <div class="content-section__main col-8 offset-2"> <div class="block block-layout-builder block-field-blocknodesection-pagebody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p>Rare Disease Day is an international event held in late February to raise awareness about the impact on patients and need for research.</p> <p>Rare genetic diseases are collectively common: they affect 1 in 10 people in North America. While more than 8,000 genes are known to drive these diseases, fewer than 500 have an available treatment. The mismatch in these numbers underscores the urgent need to disrupt the status quo and develop new approaches to deliver precision cures at scale.</p> <p><a class="ck-anchor" id="2024"> </a></p> <h2>Rare Disease Day 2026 | Advancing Neurodegenerative Disease Research</h2> <h3>Wednesday, February 25, 1:30 - 5 pm EST</h3> <p style="display:none;"><a target="_blank" href="#"><strong>Learn more and register</strong></a></p> <div class="floatright" style="display:none;width:45%;"> <div> </div> <p> </p> <p><a style="display:none;" href="/files/shared/images/2024RareDiseaseSeminar.pdf"><img style="width:100%;" alt src="/files/shared/images/RDD-2024.png"></a><br><em><span style="display:none;float:left;">Click to</span></em><a href="/files/shared/images/2024RareDiseaseSeminar.pdf"><em><span style="display:none;float:left;"> view the 2024 agenda</span></em></a><em><span style="display:none;float:left;">.</span></em></p> </div> <p>This year, the Ó³»­´«Ã½â€™s Ladders to Cures Scientific Accelerator in collaboration with The Termeer Institute are hosting the <a target="_blank" href="https://broad.io/RDD2026">11th Annual Rare Disease Day Event: Advancing Neurodegenerative Disease Research</a>, featuring remarks from <strong>Anna Greka</strong>, <strong>Belinda Termeer</strong>, and <strong>Catharine Smith</strong>, in addition to a lineup of speakers from the rare disease space including <strong>Mandana Arbab</strong>, <strong>Hilary Eaton</strong>, <strong>Kasper Roet</strong>, <strong>Juliana Gentile</strong>, <strong>Dan Leonard</strong>, and <strong>Allyson Berent</strong>.</p> <p><strong>Ó³»­´«Ã½</strong> is committed to uncovering the genetic roots of rare diseases and to using those insights to develop new treatments. With projects spanning multiple disease areas, Ó³»­´«Ã½ scientists are using genetics, functional genomics, computational biology, and chemical biology to better understand and ultimately seek effective treatments for rare diseases.</p> <p>Building on the bold legacy of Henri Termeer, who pioneered groundbreaking treatments for rare diseases, <strong>The Termeer Foundation</strong> is a nonprofit organization working to connect the world of healthcare innovators until every patient has a cure.</p> <p><em>If you have any questions regarding the event or an accessibility request, please reach out to Katie Liguori at </em><a href="mailto:kliguori@broadinstitute.org"><em>kliguori@broadinstitute.org</em></a><em>.</em></p> <p dir="ltr"> </p> <h2><a class="ck-anchor" id="past"></a>Past Focus on Rare Disease events</h2> <p><iframe frameborder="0" height="315" width="560" src="https://www.youtube.com/embed/videoseries?list=PLlMMtlgw6qNgTyJnvQvY-Zkt26eRLL9nm" title="YouTube video player" allowfullscreen allow="accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture"> </iframe></p> <ul> <li data-list-item-id="e4b02ee25ad0f4f4903a49dd2388b60f2">2026: <a target="_blank" href="https://www.ladders2cures.org/events/11th-annual-rare-disease-day-event-advancing-neurodegenerative-disease-research">Advancing Neurodegenerative Disease Research</a></li> <li data-list-item-id="e79b37543a86363dbcabb9e2efcecd0da">2025: <a target="_blank" href="https://www.ladders2cures.org/events/10th-annual-rare-disease-day-event-an-era-of-innovation-for-rare-diseases">An Era of Innovation for Rare Diseases</a></li> <li data-list-item-id="e82d462222db05dff3decd31276bf53fa">2024: <a href="/files/shared/images/2024RareDiseaseSeminar.pdf">Climbing Ladders to Cures in Rare Disease Research</a></li> <li data-list-item-id="e95e30f4324b81435ce44767dd38ded2a">2023: <a href="/files/images/2023RareDiseaseSeminar.pdf">Patients as Partners</a></li> <li data-list-item-id="e3f036df643540dfd3dcbb8608ec55475">2022: <a href="/files/shared/images/2022RareDiseaseSeminar.pdf">Spotlight on Cancer</a></li> <li data-list-item-id="eeedc6fee723a178342d5d08d83170a41">2021: <a href="/files/shared/images/2021RareDiseaseSeminar.pdf">Prime time–gene therapy for rare disorders</a></li> <li data-list-item-id="e2592234d9db5ef071ddd7a555270df20">2020: <a href="/files/shared/images/2020RareDiseaseSeminar.pdf">Putting patients in the driver's seat.</a></li> <li data-list-item-id="ef9b4ba53119c7ab413f07b0cb7cb31df">2019: <a href="/files/shared/images/2019RareDiseaseSeminar.pdf">Decoding genomes, unlocking therapies</a></li> <li data-list-item-id="e8a37e4d6d7319874f12831532bbf3b5c">2018: <a href="/files/shared/images/2018RareDiseaseSeminar.pdf">New hope for kidney diseases</a></li> <li data-list-item-id="e1a249737df6d5c7ca721e945ba78bd92">2017: <a href="/files/shared/images/2017RareDiseaseSeminar.pdf">Solving the genomic puzzle</a></li> <li data-list-item-id="e63324458085be6d06c05f2455166b759">2016: <a href="/files/shared/images/2016RareDiseaseSeminar.pdf">From patients to genes, and from genes to treatments</a></li> </ul> <p><a class="ck-anchor" id="vgt"></a> </p> <h2>Virtual Gallery Tour</h2> <p><a target="_blank" href="https://artspaces.kunstmatrix.com/en/exhibition/3961633/artfully-rare?t=1613498119">View a Beyond the Diagnosis virtual gallery tour here.</a></p> <p style="display:none;" dir="ltr">The <em>Beyond the Diagnosis</em> exhibit is on view to Ó³»­´«Ã½ies in the Ted and Vada Stanley Building lobby, 75 Ames Street, Cambridge. </p> <style type="text/css">tr { border-bottom-style:none!important; } td { vertical-align:top; } .time { width:30%; font-weight:600; } .talk { font-weight:600; } </style></div> </div> </div> <div class="content-section__right col-2"> <div class="block block-ctools block-entity-viewnode"> <article about="/rare-disease-day" class="node node--type-section-page node--promoted node--view-mode-sidebar"> <div class="node__content"> <div class="sidebar-group"> <div class="sidebar-group__title"> <div class="block block-layout-builder block-field-blocknodesection-pagefield-gsp-title-links"> <div class="clearfix text-formatted field field--name-field-gsp-title-links field--type-text field--label-hidden field__item"><p>Related</p> </div> </div> </div> <div class="sidebar-group__content"> <div class="block block-layout-builder block-field-blocknodesection-pagefield-gsp-links"> <div class="field field--name-field-gsp-links field--type-link field--label-hidden field__items"> <div class="field__item"><a href="/blog/putting-face-rare-disease">Putting a face on rare disease</a></div> <div class="field__item"><a href="/podcast/rare-disease-research-inspired-patient-care-anna-greka">Rare disease research inspired by patient care, with Anna Greka</a></div> <div class="field__item"><a href="https://youtu.be/Mq2VK_DuBuU">Beyond the Diagnosis video</a></div> </div> </div> </div> </div> <div class="sidebar-group"> <div class="sidebar-group__content"> <div class="block block-layout-builder block-field-blocknodesection-pagefield-gsp-extra-info"> <div class="clearfix text-formatted field field--name-field-gsp-extra-info field--type-text-long field--label-hidden field__item"><h2 style="color:#0f6db7;padding-top:11px;">Rare Disease Day 2026</h2> <ul> <li style="display:none;" data-list-item-id="e444db12c1a1a6df0f4a388ca0034e277"><a target="_blank" href="#">Register</a></li> <li data-list-item-id="e66d58e874ba598a28a053ce37e7aa663"><a href="#past">Past Focus on Rare Disease Events</a></li> <li data-list-item-id="e86ff18455e41d79e925ab657a762ceff"><a href="#vgt">Virtual Gallery Tour</a></li> </ul> </div> </div> </div> </div> </div> </article> </div> </div> </div> </div> Tue, 11 Mar 2025 13:18:28 +0000 Corie Lok 5558201 at /news/gene-editing-extends-lifespan-mouse-model-prion-disease <span class="field field--name-title field--type-string field--label-hidden"><h1>Rare Disease Day</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Maria Nemchuk</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2026-02-05T14:20:35-05:00" title="Thursday, February 5, 2026 - 14:20" class="datetime">February 5, 2026</time> </span> <div class="hero-section hero-section_image-bottom container"> <div class="hero-section__row row"> <div class="hero-section__content col-8 offset-2"> <div class="hero-section__breadcrumbs"> <div class="block block-layout-builder block-extra-field-blocknodesection-pagebreadcrumbs"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodesection-pagetitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Rare Disease Day</h1> </span> </div> </div> </div> </div> </div> <div class="content-section content-section_with-sidebars container"> <div class="row"> <div class="content-section__main col-8 offset-2"> <div class="block block-layout-builder block-field-blocknodesection-pagebody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p>Rare Disease Day is an international event held in late February to raise awareness about the impact on patients and need for research.</p> <p>Rare genetic diseases are collectively common: they affect 1 in 10 people in North America. While more than 8,000 genes are known to drive these diseases, fewer than 500 have an available treatment. The mismatch in these numbers underscores the urgent need to disrupt the status quo and develop new approaches to deliver precision cures at scale.</p> <p><a class="ck-anchor" id="2024"> </a></p> <h2>Rare Disease Day 2026 | Advancing Neurodegenerative Disease Research</h2> <h3>Wednesday, February 25, 1:30 - 5 pm EST</h3> <p style="display:none;"><a target="_blank" href="#"><strong>Learn more and register</strong></a></p> <div class="floatright" style="display:none;width:45%;"> <div> </div> <p> </p> <p><a style="display:none;" href="/files/shared/images/2024RareDiseaseSeminar.pdf"><img style="width:100%;" alt src="/files/shared/images/RDD-2024.png"></a><br><em><span style="display:none;float:left;">Click to</span></em><a href="/files/shared/images/2024RareDiseaseSeminar.pdf"><em><span style="display:none;float:left;"> view the 2024 agenda</span></em></a><em><span style="display:none;float:left;">.</span></em></p> </div> <p>This year, the Ó³»­´«Ã½â€™s Ladders to Cures Scientific Accelerator in collaboration with The Termeer Institute are hosting the <a target="_blank" href="https://broad.io/RDD2026">11th Annual Rare Disease Day Event: Advancing Neurodegenerative Disease Research</a>, featuring remarks from <strong>Anna Greka</strong>, <strong>Belinda Termeer</strong>, and <strong>Catharine Smith</strong>, in addition to a lineup of speakers from the rare disease space including <strong>Mandana Arbab</strong>, <strong>Hilary Eaton</strong>, <strong>Kasper Roet</strong>, <strong>Juliana Gentile</strong>, <strong>Dan Leonard</strong>, and <strong>Allyson Berent</strong>.</p> <p><strong>Ó³»­´«Ã½</strong> is committed to uncovering the genetic roots of rare diseases and to using those insights to develop new treatments. With projects spanning multiple disease areas, Ó³»­´«Ã½ scientists are using genetics, functional genomics, computational biology, and chemical biology to better understand and ultimately seek effective treatments for rare diseases.</p> <p>Building on the bold legacy of Henri Termeer, who pioneered groundbreaking treatments for rare diseases, <strong>The Termeer Foundation</strong> is a nonprofit organization working to connect the world of healthcare innovators until every patient has a cure.</p> <p><em>If you have any questions regarding the event or an accessibility request, please reach out to Katie Liguori at </em><a href="mailto:kliguori@broadinstitute.org"><em>kliguori@broadinstitute.org</em></a><em>.</em></p> <p dir="ltr"> </p> <h2><a class="ck-anchor" id="past"></a>Past Focus on Rare Disease events</h2> <p><iframe frameborder="0" height="315" width="560" src="https://www.youtube.com/embed/videoseries?list=PLlMMtlgw6qNgTyJnvQvY-Zkt26eRLL9nm" title="YouTube video player" allowfullscreen allow="accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture"> </iframe></p> <ul> <li data-list-item-id="e4b02ee25ad0f4f4903a49dd2388b60f2">2026: <a target="_blank" href="https://www.ladders2cures.org/events/11th-annual-rare-disease-day-event-advancing-neurodegenerative-disease-research">Advancing Neurodegenerative Disease Research</a></li> <li data-list-item-id="e79b37543a86363dbcabb9e2efcecd0da">2025: <a target="_blank" href="https://www.ladders2cures.org/events/10th-annual-rare-disease-day-event-an-era-of-innovation-for-rare-diseases">An Era of Innovation for Rare Diseases</a></li> <li data-list-item-id="e82d462222db05dff3decd31276bf53fa">2024: <a href="/files/shared/images/2024RareDiseaseSeminar.pdf">Climbing Ladders to Cures in Rare Disease Research</a></li> <li data-list-item-id="e95e30f4324b81435ce44767dd38ded2a">2023: <a href="/files/images/2023RareDiseaseSeminar.pdf">Patients as Partners</a></li> <li data-list-item-id="e3f036df643540dfd3dcbb8608ec55475">2022: <a href="/files/shared/images/2022RareDiseaseSeminar.pdf">Spotlight on Cancer</a></li> <li data-list-item-id="eeedc6fee723a178342d5d08d83170a41">2021: <a href="/files/shared/images/2021RareDiseaseSeminar.pdf">Prime time–gene therapy for rare disorders</a></li> <li data-list-item-id="e2592234d9db5ef071ddd7a555270df20">2020: <a href="/files/shared/images/2020RareDiseaseSeminar.pdf">Putting patients in the driver's seat.</a></li> <li data-list-item-id="ef9b4ba53119c7ab413f07b0cb7cb31df">2019: <a href="/files/shared/images/2019RareDiseaseSeminar.pdf">Decoding genomes, unlocking therapies</a></li> <li data-list-item-id="e8a37e4d6d7319874f12831532bbf3b5c">2018: <a href="/files/shared/images/2018RareDiseaseSeminar.pdf">New hope for kidney diseases</a></li> <li data-list-item-id="e1a249737df6d5c7ca721e945ba78bd92">2017: <a href="/files/shared/images/2017RareDiseaseSeminar.pdf">Solving the genomic puzzle</a></li> <li data-list-item-id="e63324458085be6d06c05f2455166b759">2016: <a href="/files/shared/images/2016RareDiseaseSeminar.pdf">From patients to genes, and from genes to treatments</a></li> </ul> <p><a class="ck-anchor" id="vgt"></a> </p> <h2>Virtual Gallery Tour</h2> <p><a target="_blank" href="https://artspaces.kunstmatrix.com/en/exhibition/3961633/artfully-rare?t=1613498119">View a Beyond the Diagnosis virtual gallery tour here.</a></p> <p style="display:none;" dir="ltr">The <em>Beyond the Diagnosis</em> exhibit is on view to Ó³»­´«Ã½ies in the Ted and Vada Stanley Building lobby, 75 Ames Street, Cambridge. </p> <style type="text/css">tr { border-bottom-style:none!important; } td { vertical-align:top; } .time { width:30%; font-weight:600; } .talk { font-weight:600; } </style></div> </div> </div> <div class="content-section__right col-2"> <div class="block block-ctools block-entity-viewnode"> <article about="/rare-disease-day" class="node node--type-section-page node--promoted node--view-mode-sidebar"> <div class="node__content"> <div class="sidebar-group"> <div class="sidebar-group__title"> <div class="block block-layout-builder block-field-blocknodesection-pagefield-gsp-title-links"> <div class="clearfix text-formatted field field--name-field-gsp-title-links field--type-text field--label-hidden field__item"><p>Related</p> </div> </div> </div> <div class="sidebar-group__content"> <div class="block block-layout-builder block-field-blocknodesection-pagefield-gsp-links"> <div class="field field--name-field-gsp-links field--type-link field--label-hidden field__items"> <div class="field__item"><a href="/blog/putting-face-rare-disease">Putting a face on rare disease</a></div> <div class="field__item"><a href="/podcast/rare-disease-research-inspired-patient-care-anna-greka">Rare disease research inspired by patient care, with Anna Greka</a></div> <div class="field__item"><a href="https://youtu.be/Mq2VK_DuBuU">Beyond the Diagnosis video</a></div> </div> </div> </div> </div> <div class="sidebar-group"> <div class="sidebar-group__content"> <div class="block block-layout-builder block-field-blocknodesection-pagefield-gsp-extra-info"> <div class="clearfix text-formatted field field--name-field-gsp-extra-info field--type-text-long field--label-hidden field__item"><h2 style="color:#0f6db7;padding-top:11px;">Rare Disease Day 2026</h2> <ul> <li style="display:none;" data-list-item-id="e444db12c1a1a6df0f4a388ca0034e277"><a target="_blank" href="#">Register</a></li> <li data-list-item-id="e66d58e874ba598a28a053ce37e7aa663"><a href="#past">Past Focus on Rare Disease Events</a></li> <li data-list-item-id="e86ff18455e41d79e925ab657a762ceff"><a href="#vgt">Virtual Gallery Tour</a></li> </ul> </div> </div> </div> </div> </div> </article> </div> </div> </div> </div> Tue, 14 Jan 2025 10:00:00 +0000 adicorat 5558086 at /news/clinical-genomicist-harnesses-team-based-science-help-rare-disease-patients <span class="field field--name-title field--type-string field--label-hidden"><h1>Rare Disease Day</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Maria Nemchuk</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2026-02-05T14:20:35-05:00" title="Thursday, February 5, 2026 - 14:20" class="datetime">February 5, 2026</time> </span> <div class="hero-section hero-section_image-bottom container"> <div class="hero-section__row row"> <div class="hero-section__content col-8 offset-2"> <div class="hero-section__breadcrumbs"> <div class="block block-layout-builder block-extra-field-blocknodesection-pagebreadcrumbs"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodesection-pagetitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Rare Disease Day</h1> </span> </div> </div> </div> </div> </div> <div class="content-section content-section_with-sidebars container"> <div class="row"> <div class="content-section__main col-8 offset-2"> <div class="block block-layout-builder block-field-blocknodesection-pagebody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p>Rare Disease Day is an international event held in late February to raise awareness about the impact on patients and need for research.</p> <p>Rare genetic diseases are collectively common: they affect 1 in 10 people in North America. While more than 8,000 genes are known to drive these diseases, fewer than 500 have an available treatment. The mismatch in these numbers underscores the urgent need to disrupt the status quo and develop new approaches to deliver precision cures at scale.</p> <p><a class="ck-anchor" id="2024"> </a></p> <h2>Rare Disease Day 2026 | Advancing Neurodegenerative Disease Research</h2> <h3>Wednesday, February 25, 1:30 - 5 pm EST</h3> <p style="display:none;"><a target="_blank" href="#"><strong>Learn more and register</strong></a></p> <div class="floatright" style="display:none;width:45%;"> <div> </div> <p> </p> <p><a style="display:none;" href="/files/shared/images/2024RareDiseaseSeminar.pdf"><img style="width:100%;" alt src="/files/shared/images/RDD-2024.png"></a><br><em><span style="display:none;float:left;">Click to</span></em><a href="/files/shared/images/2024RareDiseaseSeminar.pdf"><em><span style="display:none;float:left;"> view the 2024 agenda</span></em></a><em><span style="display:none;float:left;">.</span></em></p> </div> <p>This year, the Ó³»­´«Ã½â€™s Ladders to Cures Scientific Accelerator in collaboration with The Termeer Institute are hosting the <a target="_blank" href="https://broad.io/RDD2026">11th Annual Rare Disease Day Event: Advancing Neurodegenerative Disease Research</a>, featuring remarks from <strong>Anna Greka</strong>, <strong>Belinda Termeer</strong>, and <strong>Catharine Smith</strong>, in addition to a lineup of speakers from the rare disease space including <strong>Mandana Arbab</strong>, <strong>Hilary Eaton</strong>, <strong>Kasper Roet</strong>, <strong>Juliana Gentile</strong>, <strong>Dan Leonard</strong>, and <strong>Allyson Berent</strong>.</p> <p><strong>Ó³»­´«Ã½</strong> is committed to uncovering the genetic roots of rare diseases and to using those insights to develop new treatments. With projects spanning multiple disease areas, Ó³»­´«Ã½ scientists are using genetics, functional genomics, computational biology, and chemical biology to better understand and ultimately seek effective treatments for rare diseases.</p> <p>Building on the bold legacy of Henri Termeer, who pioneered groundbreaking treatments for rare diseases, <strong>The Termeer Foundation</strong> is a nonprofit organization working to connect the world of healthcare innovators until every patient has a cure.</p> <p><em>If you have any questions regarding the event or an accessibility request, please reach out to Katie Liguori at </em><a href="mailto:kliguori@broadinstitute.org"><em>kliguori@broadinstitute.org</em></a><em>.</em></p> <p dir="ltr"> </p> <h2><a class="ck-anchor" id="past"></a>Past Focus on Rare Disease events</h2> <p><iframe frameborder="0" height="315" width="560" src="https://www.youtube.com/embed/videoseries?list=PLlMMtlgw6qNgTyJnvQvY-Zkt26eRLL9nm" title="YouTube video player" allowfullscreen allow="accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture"> </iframe></p> <ul> <li data-list-item-id="e4b02ee25ad0f4f4903a49dd2388b60f2">2026: <a target="_blank" href="https://www.ladders2cures.org/events/11th-annual-rare-disease-day-event-advancing-neurodegenerative-disease-research">Advancing Neurodegenerative Disease Research</a></li> <li data-list-item-id="e79b37543a86363dbcabb9e2efcecd0da">2025: <a target="_blank" href="https://www.ladders2cures.org/events/10th-annual-rare-disease-day-event-an-era-of-innovation-for-rare-diseases">An Era of Innovation for Rare Diseases</a></li> <li data-list-item-id="e82d462222db05dff3decd31276bf53fa">2024: <a href="/files/shared/images/2024RareDiseaseSeminar.pdf">Climbing Ladders to Cures in Rare Disease Research</a></li> <li data-list-item-id="e95e30f4324b81435ce44767dd38ded2a">2023: <a href="/files/images/2023RareDiseaseSeminar.pdf">Patients as Partners</a></li> <li data-list-item-id="e3f036df643540dfd3dcbb8608ec55475">2022: <a href="/files/shared/images/2022RareDiseaseSeminar.pdf">Spotlight on Cancer</a></li> <li data-list-item-id="eeedc6fee723a178342d5d08d83170a41">2021: <a href="/files/shared/images/2021RareDiseaseSeminar.pdf">Prime time–gene therapy for rare disorders</a></li> <li data-list-item-id="e2592234d9db5ef071ddd7a555270df20">2020: <a href="/files/shared/images/2020RareDiseaseSeminar.pdf">Putting patients in the driver's seat.</a></li> <li data-list-item-id="ef9b4ba53119c7ab413f07b0cb7cb31df">2019: <a href="/files/shared/images/2019RareDiseaseSeminar.pdf">Decoding genomes, unlocking therapies</a></li> <li data-list-item-id="e8a37e4d6d7319874f12831532bbf3b5c">2018: <a href="/files/shared/images/2018RareDiseaseSeminar.pdf">New hope for kidney diseases</a></li> <li data-list-item-id="e1a249737df6d5c7ca721e945ba78bd92">2017: <a href="/files/shared/images/2017RareDiseaseSeminar.pdf">Solving the genomic puzzle</a></li> <li data-list-item-id="e63324458085be6d06c05f2455166b759">2016: <a href="/files/shared/images/2016RareDiseaseSeminar.pdf">From patients to genes, and from genes to treatments</a></li> </ul> <p><a class="ck-anchor" id="vgt"></a> </p> <h2>Virtual Gallery Tour</h2> <p><a target="_blank" href="https://artspaces.kunstmatrix.com/en/exhibition/3961633/artfully-rare?t=1613498119">View a Beyond the Diagnosis virtual gallery tour here.</a></p> <p style="display:none;" dir="ltr">The <em>Beyond the Diagnosis</em> exhibit is on view to Ó³»­´«Ã½ies in the Ted and Vada Stanley Building lobby, 75 Ames Street, Cambridge. </p> <style type="text/css">tr { border-bottom-style:none!important; } td { vertical-align:top; } .time { width:30%; font-weight:600; } .talk { font-weight:600; } </style></div> </div> </div> <div class="content-section__right col-2"> <div class="block block-ctools block-entity-viewnode"> <article about="/rare-disease-day" class="node node--type-section-page node--promoted node--view-mode-sidebar"> <div class="node__content"> <div class="sidebar-group"> <div class="sidebar-group__title"> <div class="block block-layout-builder block-field-blocknodesection-pagefield-gsp-title-links"> <div class="clearfix text-formatted field field--name-field-gsp-title-links field--type-text field--label-hidden field__item"><p>Related</p> </div> </div> </div> <div class="sidebar-group__content"> <div class="block block-layout-builder block-field-blocknodesection-pagefield-gsp-links"> <div class="field field--name-field-gsp-links field--type-link field--label-hidden field__items"> <div class="field__item"><a href="/blog/putting-face-rare-disease">Putting a face on rare disease</a></div> <div class="field__item"><a href="/podcast/rare-disease-research-inspired-patient-care-anna-greka">Rare disease research inspired by patient care, with Anna Greka</a></div> <div class="field__item"><a href="https://youtu.be/Mq2VK_DuBuU">Beyond the Diagnosis video</a></div> </div> </div> </div> </div> <div class="sidebar-group"> <div class="sidebar-group__content"> <div class="block block-layout-builder block-field-blocknodesection-pagefield-gsp-extra-info"> <div class="clearfix text-formatted field field--name-field-gsp-extra-info field--type-text-long field--label-hidden field__item"><h2 style="color:#0f6db7;padding-top:11px;">Rare Disease Day 2026</h2> <ul> <li style="display:none;" data-list-item-id="e444db12c1a1a6df0f4a388ca0034e277"><a target="_blank" href="#">Register</a></li> <li data-list-item-id="e66d58e874ba598a28a053ce37e7aa663"><a href="#past">Past Focus on Rare Disease Events</a></li> <li data-list-item-id="e86ff18455e41d79e925ab657a762ceff"><a href="#vgt">Virtual Gallery Tour</a></li> </ul> </div> </div> </div> </div> </div> </article> </div> </div> </div> </div> Tue, 07 Jan 2025 14:00:00 +0000 adicorat 5557606 at /news/researchers-engineer-vivo-delivery-system-prime-editing-partially-restoring-vision-mice <span class="field field--name-title field--type-string field--label-hidden"><h1>Rare Disease Day</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Maria Nemchuk</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2026-02-05T14:20:35-05:00" title="Thursday, February 5, 2026 - 14:20" class="datetime">February 5, 2026</time> </span> <div class="hero-section hero-section_image-bottom container"> <div class="hero-section__row row"> <div class="hero-section__content col-8 offset-2"> <div class="hero-section__breadcrumbs"> <div class="block block-layout-builder block-extra-field-blocknodesection-pagebreadcrumbs"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodesection-pagetitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Rare Disease Day</h1> </span> </div> </div> </div> </div> </div> <div class="content-section content-section_with-sidebars container"> <div class="row"> <div class="content-section__main col-8 offset-2"> <div class="block block-layout-builder block-field-blocknodesection-pagebody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p>Rare Disease Day is an international event held in late February to raise awareness about the impact on patients and need for research.</p> <p>Rare genetic diseases are collectively common: they affect 1 in 10 people in North America. While more than 8,000 genes are known to drive these diseases, fewer than 500 have an available treatment. The mismatch in these numbers underscores the urgent need to disrupt the status quo and develop new approaches to deliver precision cures at scale.</p> <p><a class="ck-anchor" id="2024"> </a></p> <h2>Rare Disease Day 2026 | Advancing Neurodegenerative Disease Research</h2> <h3>Wednesday, February 25, 1:30 - 5 pm EST</h3> <p style="display:none;"><a target="_blank" href="#"><strong>Learn more and register</strong></a></p> <div class="floatright" style="display:none;width:45%;"> <div> </div> <p> </p> <p><a style="display:none;" href="/files/shared/images/2024RareDiseaseSeminar.pdf"><img style="width:100%;" alt src="/files/shared/images/RDD-2024.png"></a><br><em><span style="display:none;float:left;">Click to</span></em><a href="/files/shared/images/2024RareDiseaseSeminar.pdf"><em><span style="display:none;float:left;"> view the 2024 agenda</span></em></a><em><span style="display:none;float:left;">.</span></em></p> </div> <p>This year, the Ó³»­´«Ã½â€™s Ladders to Cures Scientific Accelerator in collaboration with The Termeer Institute are hosting the <a target="_blank" href="https://broad.io/RDD2026">11th Annual Rare Disease Day Event: Advancing Neurodegenerative Disease Research</a>, featuring remarks from <strong>Anna Greka</strong>, <strong>Belinda Termeer</strong>, and <strong>Catharine Smith</strong>, in addition to a lineup of speakers from the rare disease space including <strong>Mandana Arbab</strong>, <strong>Hilary Eaton</strong>, <strong>Kasper Roet</strong>, <strong>Juliana Gentile</strong>, <strong>Dan Leonard</strong>, and <strong>Allyson Berent</strong>.</p> <p><strong>Ó³»­´«Ã½</strong> is committed to uncovering the genetic roots of rare diseases and to using those insights to develop new treatments. With projects spanning multiple disease areas, Ó³»­´«Ã½ scientists are using genetics, functional genomics, computational biology, and chemical biology to better understand and ultimately seek effective treatments for rare diseases.</p> <p>Building on the bold legacy of Henri Termeer, who pioneered groundbreaking treatments for rare diseases, <strong>The Termeer Foundation</strong> is a nonprofit organization working to connect the world of healthcare innovators until every patient has a cure.</p> <p><em>If you have any questions regarding the event or an accessibility request, please reach out to Katie Liguori at </em><a href="mailto:kliguori@broadinstitute.org"><em>kliguori@broadinstitute.org</em></a><em>.</em></p> <p dir="ltr"> </p> <h2><a class="ck-anchor" id="past"></a>Past Focus on Rare Disease events</h2> <p><iframe frameborder="0" height="315" width="560" src="https://www.youtube.com/embed/videoseries?list=PLlMMtlgw6qNgTyJnvQvY-Zkt26eRLL9nm" title="YouTube video player" allowfullscreen allow="accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture"> </iframe></p> <ul> <li data-list-item-id="e4b02ee25ad0f4f4903a49dd2388b60f2">2026: <a target="_blank" href="https://www.ladders2cures.org/events/11th-annual-rare-disease-day-event-advancing-neurodegenerative-disease-research">Advancing Neurodegenerative Disease Research</a></li> <li data-list-item-id="e79b37543a86363dbcabb9e2efcecd0da">2025: <a target="_blank" href="https://www.ladders2cures.org/events/10th-annual-rare-disease-day-event-an-era-of-innovation-for-rare-diseases">An Era of Innovation for Rare Diseases</a></li> <li data-list-item-id="e82d462222db05dff3decd31276bf53fa">2024: <a href="/files/shared/images/2024RareDiseaseSeminar.pdf">Climbing Ladders to Cures in Rare Disease Research</a></li> <li data-list-item-id="e95e30f4324b81435ce44767dd38ded2a">2023: <a href="/files/images/2023RareDiseaseSeminar.pdf">Patients as Partners</a></li> <li data-list-item-id="e3f036df643540dfd3dcbb8608ec55475">2022: <a href="/files/shared/images/2022RareDiseaseSeminar.pdf">Spotlight on Cancer</a></li> <li data-list-item-id="eeedc6fee723a178342d5d08d83170a41">2021: <a href="/files/shared/images/2021RareDiseaseSeminar.pdf">Prime time–gene therapy for rare disorders</a></li> <li data-list-item-id="e2592234d9db5ef071ddd7a555270df20">2020: <a href="/files/shared/images/2020RareDiseaseSeminar.pdf">Putting patients in the driver's seat.</a></li> <li data-list-item-id="ef9b4ba53119c7ab413f07b0cb7cb31df">2019: <a href="/files/shared/images/2019RareDiseaseSeminar.pdf">Decoding genomes, unlocking therapies</a></li> <li data-list-item-id="e8a37e4d6d7319874f12831532bbf3b5c">2018: <a href="/files/shared/images/2018RareDiseaseSeminar.pdf">New hope for kidney diseases</a></li> <li data-list-item-id="e1a249737df6d5c7ca721e945ba78bd92">2017: <a href="/files/shared/images/2017RareDiseaseSeminar.pdf">Solving the genomic puzzle</a></li> <li data-list-item-id="e63324458085be6d06c05f2455166b759">2016: <a href="/files/shared/images/2016RareDiseaseSeminar.pdf">From patients to genes, and from genes to treatments</a></li> </ul> <p><a class="ck-anchor" id="vgt"></a> </p> <h2>Virtual Gallery Tour</h2> <p><a target="_blank" href="https://artspaces.kunstmatrix.com/en/exhibition/3961633/artfully-rare?t=1613498119">View a Beyond the Diagnosis virtual gallery tour here.</a></p> <p style="display:none;" dir="ltr">The <em>Beyond the Diagnosis</em> exhibit is on view to Ó³»­´«Ã½ies in the Ted and Vada Stanley Building lobby, 75 Ames Street, Cambridge. </p> <style type="text/css">tr { border-bottom-style:none!important; } td { vertical-align:top; } .time { width:30%; font-weight:600; } .talk { font-weight:600; } </style></div> </div> </div> <div class="content-section__right col-2"> <div class="block block-ctools block-entity-viewnode"> <article about="/rare-disease-day" class="node node--type-section-page node--promoted node--view-mode-sidebar"> <div class="node__content"> <div class="sidebar-group"> <div class="sidebar-group__title"> <div class="block block-layout-builder block-field-blocknodesection-pagefield-gsp-title-links"> <div class="clearfix text-formatted field field--name-field-gsp-title-links field--type-text field--label-hidden field__item"><p>Related</p> </div> </div> </div> <div class="sidebar-group__content"> <div class="block block-layout-builder block-field-blocknodesection-pagefield-gsp-links"> <div class="field field--name-field-gsp-links field--type-link field--label-hidden field__items"> <div class="field__item"><a href="/blog/putting-face-rare-disease">Putting a face on rare disease</a></div> <div class="field__item"><a href="/podcast/rare-disease-research-inspired-patient-care-anna-greka">Rare disease research inspired by patient care, with Anna Greka</a></div> <div class="field__item"><a href="https://youtu.be/Mq2VK_DuBuU">Beyond the Diagnosis video</a></div> </div> </div> </div> </div> <div class="sidebar-group"> <div class="sidebar-group__content"> <div class="block block-layout-builder block-field-blocknodesection-pagefield-gsp-extra-info"> <div class="clearfix text-formatted field field--name-field-gsp-extra-info field--type-text-long field--label-hidden field__item"><h2 style="color:#0f6db7;padding-top:11px;">Rare Disease Day 2026</h2> <ul> <li style="display:none;" data-list-item-id="e444db12c1a1a6df0f4a388ca0034e277"><a target="_blank" href="#">Register</a></li> <li data-list-item-id="e66d58e874ba598a28a053ce37e7aa663"><a href="#past">Past Focus on Rare Disease Events</a></li> <li data-list-item-id="e86ff18455e41d79e925ab657a762ceff"><a href="#vgt">Virtual Gallery Tour</a></li> </ul> </div> </div> </div> </div> </div> </article> </div> </div> </div> </div> Mon, 08 Jan 2024 11:29:17 +0000 Corie Lok 5556226 at /news/approach-studies-how-rare-gene-variant-pairs-contribute-disease <span class="field field--name-title field--type-string field--label-hidden"><h1>Rare Disease Day</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Maria Nemchuk</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2026-02-05T14:20:35-05:00" title="Thursday, February 5, 2026 - 14:20" class="datetime">February 5, 2026</time> </span> <div class="hero-section hero-section_image-bottom container"> <div class="hero-section__row row"> <div class="hero-section__content col-8 offset-2"> <div class="hero-section__breadcrumbs"> <div class="block block-layout-builder block-extra-field-blocknodesection-pagebreadcrumbs"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodesection-pagetitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Rare Disease Day</h1> </span> </div> </div> </div> </div> </div> <div class="content-section content-section_with-sidebars container"> <div class="row"> <div class="content-section__main col-8 offset-2"> <div class="block block-layout-builder block-field-blocknodesection-pagebody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p>Rare Disease Day is an international event held in late February to raise awareness about the impact on patients and need for research.</p> <p>Rare genetic diseases are collectively common: they affect 1 in 10 people in North America. While more than 8,000 genes are known to drive these diseases, fewer than 500 have an available treatment. The mismatch in these numbers underscores the urgent need to disrupt the status quo and develop new approaches to deliver precision cures at scale.</p> <p><a class="ck-anchor" id="2024"> </a></p> <h2>Rare Disease Day 2026 | Advancing Neurodegenerative Disease Research</h2> <h3>Wednesday, February 25, 1:30 - 5 pm EST</h3> <p style="display:none;"><a target="_blank" href="#"><strong>Learn more and register</strong></a></p> <div class="floatright" style="display:none;width:45%;"> <div> </div> <p> </p> <p><a style="display:none;" href="/files/shared/images/2024RareDiseaseSeminar.pdf"><img style="width:100%;" alt src="/files/shared/images/RDD-2024.png"></a><br><em><span style="display:none;float:left;">Click to</span></em><a href="/files/shared/images/2024RareDiseaseSeminar.pdf"><em><span style="display:none;float:left;"> view the 2024 agenda</span></em></a><em><span style="display:none;float:left;">.</span></em></p> </div> <p>This year, the Ó³»­´«Ã½â€™s Ladders to Cures Scientific Accelerator in collaboration with The Termeer Institute are hosting the <a target="_blank" href="https://broad.io/RDD2026">11th Annual Rare Disease Day Event: Advancing Neurodegenerative Disease Research</a>, featuring remarks from <strong>Anna Greka</strong>, <strong>Belinda Termeer</strong>, and <strong>Catharine Smith</strong>, in addition to a lineup of speakers from the rare disease space including <strong>Mandana Arbab</strong>, <strong>Hilary Eaton</strong>, <strong>Kasper Roet</strong>, <strong>Juliana Gentile</strong>, <strong>Dan Leonard</strong>, and <strong>Allyson Berent</strong>.</p> <p><strong>Ó³»­´«Ã½</strong> is committed to uncovering the genetic roots of rare diseases and to using those insights to develop new treatments. With projects spanning multiple disease areas, Ó³»­´«Ã½ scientists are using genetics, functional genomics, computational biology, and chemical biology to better understand and ultimately seek effective treatments for rare diseases.</p> <p>Building on the bold legacy of Henri Termeer, who pioneered groundbreaking treatments for rare diseases, <strong>The Termeer Foundation</strong> is a nonprofit organization working to connect the world of healthcare innovators until every patient has a cure.</p> <p><em>If you have any questions regarding the event or an accessibility request, please reach out to Katie Liguori at </em><a href="mailto:kliguori@broadinstitute.org"><em>kliguori@broadinstitute.org</em></a><em>.</em></p> <p dir="ltr"> </p> <h2><a class="ck-anchor" id="past"></a>Past Focus on Rare Disease events</h2> <p><iframe frameborder="0" height="315" width="560" src="https://www.youtube.com/embed/videoseries?list=PLlMMtlgw6qNgTyJnvQvY-Zkt26eRLL9nm" title="YouTube video player" allowfullscreen allow="accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture"> </iframe></p> <ul> <li data-list-item-id="e4b02ee25ad0f4f4903a49dd2388b60f2">2026: <a target="_blank" href="https://www.ladders2cures.org/events/11th-annual-rare-disease-day-event-advancing-neurodegenerative-disease-research">Advancing Neurodegenerative Disease Research</a></li> <li data-list-item-id="e79b37543a86363dbcabb9e2efcecd0da">2025: <a target="_blank" href="https://www.ladders2cures.org/events/10th-annual-rare-disease-day-event-an-era-of-innovation-for-rare-diseases">An Era of Innovation for Rare Diseases</a></li> <li data-list-item-id="e82d462222db05dff3decd31276bf53fa">2024: <a href="/files/shared/images/2024RareDiseaseSeminar.pdf">Climbing Ladders to Cures in Rare Disease Research</a></li> <li data-list-item-id="e95e30f4324b81435ce44767dd38ded2a">2023: <a href="/files/images/2023RareDiseaseSeminar.pdf">Patients as Partners</a></li> <li data-list-item-id="e3f036df643540dfd3dcbb8608ec55475">2022: <a href="/files/shared/images/2022RareDiseaseSeminar.pdf">Spotlight on Cancer</a></li> <li data-list-item-id="eeedc6fee723a178342d5d08d83170a41">2021: <a href="/files/shared/images/2021RareDiseaseSeminar.pdf">Prime time–gene therapy for rare disorders</a></li> <li data-list-item-id="e2592234d9db5ef071ddd7a555270df20">2020: <a href="/files/shared/images/2020RareDiseaseSeminar.pdf">Putting patients in the driver's seat.</a></li> <li data-list-item-id="ef9b4ba53119c7ab413f07b0cb7cb31df">2019: <a href="/files/shared/images/2019RareDiseaseSeminar.pdf">Decoding genomes, unlocking therapies</a></li> <li data-list-item-id="e8a37e4d6d7319874f12831532bbf3b5c">2018: <a href="/files/shared/images/2018RareDiseaseSeminar.pdf">New hope for kidney diseases</a></li> <li data-list-item-id="e1a249737df6d5c7ca721e945ba78bd92">2017: <a href="/files/shared/images/2017RareDiseaseSeminar.pdf">Solving the genomic puzzle</a></li> <li data-list-item-id="e63324458085be6d06c05f2455166b759">2016: <a href="/files/shared/images/2016RareDiseaseSeminar.pdf">From patients to genes, and from genes to treatments</a></li> </ul> <p><a class="ck-anchor" id="vgt"></a> </p> <h2>Virtual Gallery Tour</h2> <p><a target="_blank" href="https://artspaces.kunstmatrix.com/en/exhibition/3961633/artfully-rare?t=1613498119">View a Beyond the Diagnosis virtual gallery tour here.</a></p> <p style="display:none;" dir="ltr">The <em>Beyond the Diagnosis</em> exhibit is on view to Ó³»­´«Ã½ies in the Ted and Vada Stanley Building lobby, 75 Ames Street, Cambridge. </p> <style type="text/css">tr { border-bottom-style:none!important; } td { vertical-align:top; } .time { width:30%; font-weight:600; } .talk { font-weight:600; } </style></div> </div> </div> <div class="content-section__right col-2"> <div class="block block-ctools block-entity-viewnode"> <article about="/rare-disease-day" class="node node--type-section-page node--promoted node--view-mode-sidebar"> <div class="node__content"> <div class="sidebar-group"> <div class="sidebar-group__title"> <div class="block block-layout-builder block-field-blocknodesection-pagefield-gsp-title-links"> <div class="clearfix text-formatted field field--name-field-gsp-title-links field--type-text field--label-hidden field__item"><p>Related</p> </div> </div> </div> <div class="sidebar-group__content"> <div class="block block-layout-builder block-field-blocknodesection-pagefield-gsp-links"> <div class="field field--name-field-gsp-links field--type-link field--label-hidden field__items"> <div class="field__item"><a href="/blog/putting-face-rare-disease">Putting a face on rare disease</a></div> <div class="field__item"><a href="/podcast/rare-disease-research-inspired-patient-care-anna-greka">Rare disease research inspired by patient care, with Anna Greka</a></div> <div class="field__item"><a href="https://youtu.be/Mq2VK_DuBuU">Beyond the Diagnosis video</a></div> </div> </div> </div> </div> <div class="sidebar-group"> <div class="sidebar-group__content"> <div class="block block-layout-builder block-field-blocknodesection-pagefield-gsp-extra-info"> <div class="clearfix text-formatted field field--name-field-gsp-extra-info field--type-text-long field--label-hidden field__item"><h2 style="color:#0f6db7;padding-top:11px;">Rare Disease Day 2026</h2> <ul> <li style="display:none;" data-list-item-id="e444db12c1a1a6df0f4a388ca0034e277"><a target="_blank" href="#">Register</a></li> <li data-list-item-id="e66d58e874ba598a28a053ce37e7aa663"><a href="#past">Past Focus on Rare Disease Events</a></li> <li data-list-item-id="e86ff18455e41d79e925ab657a762ceff"><a href="#vgt">Virtual Gallery Tour</a></li> </ul> </div> </div> </div> </div> </div> </article> </div> </div> </div> </div> Thu, 07 Dec 2023 17:04:15 +0000 tulrich@broadinstitute.org 5556176 at /news/whyiscience-qa-computational-biologist-helps-build-datasets-genetic-disease-diagnosis <span class="field field--name-title field--type-string field--label-hidden"><h1>Rare Disease Day</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Maria Nemchuk</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2026-02-05T14:20:35-05:00" title="Thursday, February 5, 2026 - 14:20" class="datetime">February 5, 2026</time> </span> <div class="hero-section hero-section_image-bottom container"> <div class="hero-section__row row"> <div class="hero-section__content col-8 offset-2"> <div class="hero-section__breadcrumbs"> <div class="block block-layout-builder block-extra-field-blocknodesection-pagebreadcrumbs"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodesection-pagetitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Rare Disease Day</h1> </span> </div> </div> </div> </div> </div> <div class="content-section content-section_with-sidebars container"> <div class="row"> <div class="content-section__main col-8 offset-2"> <div class="block block-layout-builder block-field-blocknodesection-pagebody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p>Rare Disease Day is an international event held in late February to raise awareness about the impact on patients and need for research.</p> <p>Rare genetic diseases are collectively common: they affect 1 in 10 people in North America. While more than 8,000 genes are known to drive these diseases, fewer than 500 have an available treatment. The mismatch in these numbers underscores the urgent need to disrupt the status quo and develop new approaches to deliver precision cures at scale.</p> <p><a class="ck-anchor" id="2024"> </a></p> <h2>Rare Disease Day 2026 | Advancing Neurodegenerative Disease Research</h2> <h3>Wednesday, February 25, 1:30 - 5 pm EST</h3> <p style="display:none;"><a target="_blank" href="#"><strong>Learn more and register</strong></a></p> <div class="floatright" style="display:none;width:45%;"> <div> </div> <p> </p> <p><a style="display:none;" href="/files/shared/images/2024RareDiseaseSeminar.pdf"><img style="width:100%;" alt src="/files/shared/images/RDD-2024.png"></a><br><em><span style="display:none;float:left;">Click to</span></em><a href="/files/shared/images/2024RareDiseaseSeminar.pdf"><em><span style="display:none;float:left;"> view the 2024 agenda</span></em></a><em><span style="display:none;float:left;">.</span></em></p> </div> <p>This year, the Ó³»­´«Ã½â€™s Ladders to Cures Scientific Accelerator in collaboration with The Termeer Institute are hosting the <a target="_blank" href="https://broad.io/RDD2026">11th Annual Rare Disease Day Event: Advancing Neurodegenerative Disease Research</a>, featuring remarks from <strong>Anna Greka</strong>, <strong>Belinda Termeer</strong>, and <strong>Catharine Smith</strong>, in addition to a lineup of speakers from the rare disease space including <strong>Mandana Arbab</strong>, <strong>Hilary Eaton</strong>, <strong>Kasper Roet</strong>, <strong>Juliana Gentile</strong>, <strong>Dan Leonard</strong>, and <strong>Allyson Berent</strong>.</p> <p><strong>Ó³»­´«Ã½</strong> is committed to uncovering the genetic roots of rare diseases and to using those insights to develop new treatments. With projects spanning multiple disease areas, Ó³»­´«Ã½ scientists are using genetics, functional genomics, computational biology, and chemical biology to better understand and ultimately seek effective treatments for rare diseases.</p> <p>Building on the bold legacy of Henri Termeer, who pioneered groundbreaking treatments for rare diseases, <strong>The Termeer Foundation</strong> is a nonprofit organization working to connect the world of healthcare innovators until every patient has a cure.</p> <p><em>If you have any questions regarding the event or an accessibility request, please reach out to Katie Liguori at </em><a href="mailto:kliguori@broadinstitute.org"><em>kliguori@broadinstitute.org</em></a><em>.</em></p> <p dir="ltr"> </p> <h2><a class="ck-anchor" id="past"></a>Past Focus on Rare Disease events</h2> <p><iframe frameborder="0" height="315" width="560" src="https://www.youtube.com/embed/videoseries?list=PLlMMtlgw6qNgTyJnvQvY-Zkt26eRLL9nm" title="YouTube video player" allowfullscreen allow="accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture"> </iframe></p> <ul> <li data-list-item-id="e4b02ee25ad0f4f4903a49dd2388b60f2">2026: <a target="_blank" href="https://www.ladders2cures.org/events/11th-annual-rare-disease-day-event-advancing-neurodegenerative-disease-research">Advancing Neurodegenerative Disease Research</a></li> <li data-list-item-id="e79b37543a86363dbcabb9e2efcecd0da">2025: <a target="_blank" href="https://www.ladders2cures.org/events/10th-annual-rare-disease-day-event-an-era-of-innovation-for-rare-diseases">An Era of Innovation for Rare Diseases</a></li> <li data-list-item-id="e82d462222db05dff3decd31276bf53fa">2024: <a href="/files/shared/images/2024RareDiseaseSeminar.pdf">Climbing Ladders to Cures in Rare Disease Research</a></li> <li data-list-item-id="e95e30f4324b81435ce44767dd38ded2a">2023: <a href="/files/images/2023RareDiseaseSeminar.pdf">Patients as Partners</a></li> <li data-list-item-id="e3f036df643540dfd3dcbb8608ec55475">2022: <a href="/files/shared/images/2022RareDiseaseSeminar.pdf">Spotlight on Cancer</a></li> <li data-list-item-id="eeedc6fee723a178342d5d08d83170a41">2021: <a href="/files/shared/images/2021RareDiseaseSeminar.pdf">Prime time–gene therapy for rare disorders</a></li> <li data-list-item-id="e2592234d9db5ef071ddd7a555270df20">2020: <a href="/files/shared/images/2020RareDiseaseSeminar.pdf">Putting patients in the driver's seat.</a></li> <li data-list-item-id="ef9b4ba53119c7ab413f07b0cb7cb31df">2019: <a href="/files/shared/images/2019RareDiseaseSeminar.pdf">Decoding genomes, unlocking therapies</a></li> <li data-list-item-id="e8a37e4d6d7319874f12831532bbf3b5c">2018: <a href="/files/shared/images/2018RareDiseaseSeminar.pdf">New hope for kidney diseases</a></li> <li data-list-item-id="e1a249737df6d5c7ca721e945ba78bd92">2017: <a href="/files/shared/images/2017RareDiseaseSeminar.pdf">Solving the genomic puzzle</a></li> <li data-list-item-id="e63324458085be6d06c05f2455166b759">2016: <a href="/files/shared/images/2016RareDiseaseSeminar.pdf">From patients to genes, and from genes to treatments</a></li> </ul> <p><a class="ck-anchor" id="vgt"></a> </p> <h2>Virtual Gallery Tour</h2> <p><a target="_blank" href="https://artspaces.kunstmatrix.com/en/exhibition/3961633/artfully-rare?t=1613498119">View a Beyond the Diagnosis virtual gallery tour here.</a></p> <p style="display:none;" dir="ltr">The <em>Beyond the Diagnosis</em> exhibit is on view to Ó³»­´«Ã½ies in the Ted and Vada Stanley Building lobby, 75 Ames Street, Cambridge. </p> <style type="text/css">tr { border-bottom-style:none!important; } td { vertical-align:top; } .time { width:30%; font-weight:600; } .talk { font-weight:600; } </style></div> </div> </div> <div class="content-section__right col-2"> <div class="block block-ctools block-entity-viewnode"> <article about="/rare-disease-day" class="node node--type-section-page node--promoted node--view-mode-sidebar"> <div class="node__content"> <div class="sidebar-group"> <div class="sidebar-group__title"> <div class="block block-layout-builder block-field-blocknodesection-pagefield-gsp-title-links"> <div class="clearfix text-formatted field field--name-field-gsp-title-links field--type-text field--label-hidden field__item"><p>Related</p> </div> </div> </div> <div class="sidebar-group__content"> <div class="block block-layout-builder block-field-blocknodesection-pagefield-gsp-links"> <div class="field field--name-field-gsp-links field--type-link field--label-hidden field__items"> <div class="field__item"><a href="/blog/putting-face-rare-disease">Putting a face on rare disease</a></div> <div class="field__item"><a href="/podcast/rare-disease-research-inspired-patient-care-anna-greka">Rare disease research inspired by patient care, with Anna Greka</a></div> <div class="field__item"><a href="https://youtu.be/Mq2VK_DuBuU">Beyond the Diagnosis video</a></div> </div> </div> </div> </div> <div class="sidebar-group"> <div class="sidebar-group__content"> <div class="block block-layout-builder block-field-blocknodesection-pagefield-gsp-extra-info"> <div class="clearfix text-formatted field field--name-field-gsp-extra-info field--type-text-long field--label-hidden field__item"><h2 style="color:#0f6db7;padding-top:11px;">Rare Disease Day 2026</h2> <ul> <li style="display:none;" data-list-item-id="e444db12c1a1a6df0f4a388ca0034e277"><a target="_blank" href="#">Register</a></li> <li data-list-item-id="e66d58e874ba598a28a053ce37e7aa663"><a href="#past">Past Focus on Rare Disease Events</a></li> <li data-list-item-id="e86ff18455e41d79e925ab657a762ceff"><a href="#vgt">Virtual Gallery Tour</a></li> </ul> </div> </div> </div> </div> </div> </article> </div> </div> </div> </div> Thu, 17 Aug 2023 13:27:18 +0000 Corie Lok 1282671 at /news/low-oxygen-levels-restore-balance-and-coordination-mouse-model-movement-disorder <span class="field field--name-title field--type-string field--label-hidden"><h1>Rare Disease Day</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Maria Nemchuk</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2026-02-05T14:20:35-05:00" title="Thursday, February 5, 2026 - 14:20" class="datetime">February 5, 2026</time> </span> <div class="hero-section hero-section_image-bottom container"> <div class="hero-section__row row"> <div class="hero-section__content col-8 offset-2"> <div class="hero-section__breadcrumbs"> <div class="block block-layout-builder block-extra-field-blocknodesection-pagebreadcrumbs"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodesection-pagetitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Rare Disease Day</h1> </span> </div> </div> </div> </div> </div> <div class="content-section content-section_with-sidebars container"> <div class="row"> <div class="content-section__main col-8 offset-2"> <div class="block block-layout-builder block-field-blocknodesection-pagebody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p>Rare Disease Day is an international event held in late February to raise awareness about the impact on patients and need for research.</p> <p>Rare genetic diseases are collectively common: they affect 1 in 10 people in North America. While more than 8,000 genes are known to drive these diseases, fewer than 500 have an available treatment. The mismatch in these numbers underscores the urgent need to disrupt the status quo and develop new approaches to deliver precision cures at scale.</p> <p><a class="ck-anchor" id="2024"> </a></p> <h2>Rare Disease Day 2026 | Advancing Neurodegenerative Disease Research</h2> <h3>Wednesday, February 25, 1:30 - 5 pm EST</h3> <p style="display:none;"><a target="_blank" href="#"><strong>Learn more and register</strong></a></p> <div class="floatright" style="display:none;width:45%;"> <div> </div> <p> </p> <p><a style="display:none;" href="/files/shared/images/2024RareDiseaseSeminar.pdf"><img style="width:100%;" alt src="/files/shared/images/RDD-2024.png"></a><br><em><span style="display:none;float:left;">Click to</span></em><a href="/files/shared/images/2024RareDiseaseSeminar.pdf"><em><span style="display:none;float:left;"> view the 2024 agenda</span></em></a><em><span style="display:none;float:left;">.</span></em></p> </div> <p>This year, the Ó³»­´«Ã½â€™s Ladders to Cures Scientific Accelerator in collaboration with The Termeer Institute are hosting the <a target="_blank" href="https://broad.io/RDD2026">11th Annual Rare Disease Day Event: Advancing Neurodegenerative Disease Research</a>, featuring remarks from <strong>Anna Greka</strong>, <strong>Belinda Termeer</strong>, and <strong>Catharine Smith</strong>, in addition to a lineup of speakers from the rare disease space including <strong>Mandana Arbab</strong>, <strong>Hilary Eaton</strong>, <strong>Kasper Roet</strong>, <strong>Juliana Gentile</strong>, <strong>Dan Leonard</strong>, and <strong>Allyson Berent</strong>.</p> <p><strong>Ó³»­´«Ã½</strong> is committed to uncovering the genetic roots of rare diseases and to using those insights to develop new treatments. With projects spanning multiple disease areas, Ó³»­´«Ã½ scientists are using genetics, functional genomics, computational biology, and chemical biology to better understand and ultimately seek effective treatments for rare diseases.</p> <p>Building on the bold legacy of Henri Termeer, who pioneered groundbreaking treatments for rare diseases, <strong>The Termeer Foundation</strong> is a nonprofit organization working to connect the world of healthcare innovators until every patient has a cure.</p> <p><em>If you have any questions regarding the event or an accessibility request, please reach out to Katie Liguori at </em><a href="mailto:kliguori@broadinstitute.org"><em>kliguori@broadinstitute.org</em></a><em>.</em></p> <p dir="ltr"> </p> <h2><a class="ck-anchor" id="past"></a>Past Focus on Rare Disease events</h2> <p><iframe frameborder="0" height="315" width="560" src="https://www.youtube.com/embed/videoseries?list=PLlMMtlgw6qNgTyJnvQvY-Zkt26eRLL9nm" title="YouTube video player" allowfullscreen allow="accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture"> </iframe></p> <ul> <li data-list-item-id="e4b02ee25ad0f4f4903a49dd2388b60f2">2026: <a target="_blank" href="https://www.ladders2cures.org/events/11th-annual-rare-disease-day-event-advancing-neurodegenerative-disease-research">Advancing Neurodegenerative Disease Research</a></li> <li data-list-item-id="e79b37543a86363dbcabb9e2efcecd0da">2025: <a target="_blank" href="https://www.ladders2cures.org/events/10th-annual-rare-disease-day-event-an-era-of-innovation-for-rare-diseases">An Era of Innovation for Rare Diseases</a></li> <li data-list-item-id="e82d462222db05dff3decd31276bf53fa">2024: <a href="/files/shared/images/2024RareDiseaseSeminar.pdf">Climbing Ladders to Cures in Rare Disease Research</a></li> <li data-list-item-id="e95e30f4324b81435ce44767dd38ded2a">2023: <a href="/files/images/2023RareDiseaseSeminar.pdf">Patients as Partners</a></li> <li data-list-item-id="e3f036df643540dfd3dcbb8608ec55475">2022: <a href="/files/shared/images/2022RareDiseaseSeminar.pdf">Spotlight on Cancer</a></li> <li data-list-item-id="eeedc6fee723a178342d5d08d83170a41">2021: <a href="/files/shared/images/2021RareDiseaseSeminar.pdf">Prime time–gene therapy for rare disorders</a></li> <li data-list-item-id="e2592234d9db5ef071ddd7a555270df20">2020: <a href="/files/shared/images/2020RareDiseaseSeminar.pdf">Putting patients in the driver's seat.</a></li> <li data-list-item-id="ef9b4ba53119c7ab413f07b0cb7cb31df">2019: <a href="/files/shared/images/2019RareDiseaseSeminar.pdf">Decoding genomes, unlocking therapies</a></li> <li data-list-item-id="e8a37e4d6d7319874f12831532bbf3b5c">2018: <a href="/files/shared/images/2018RareDiseaseSeminar.pdf">New hope for kidney diseases</a></li> <li data-list-item-id="e1a249737df6d5c7ca721e945ba78bd92">2017: <a href="/files/shared/images/2017RareDiseaseSeminar.pdf">Solving the genomic puzzle</a></li> <li data-list-item-id="e63324458085be6d06c05f2455166b759">2016: <a href="/files/shared/images/2016RareDiseaseSeminar.pdf">From patients to genes, and from genes to treatments</a></li> </ul> <p><a class="ck-anchor" id="vgt"></a> </p> <h2>Virtual Gallery Tour</h2> <p><a target="_blank" href="https://artspaces.kunstmatrix.com/en/exhibition/3961633/artfully-rare?t=1613498119">View a Beyond the Diagnosis virtual gallery tour here.</a></p> <p style="display:none;" dir="ltr">The <em>Beyond the Diagnosis</em> exhibit is on view to Ó³»­´«Ã½ies in the Ted and Vada Stanley Building lobby, 75 Ames Street, Cambridge. </p> <style type="text/css">tr { border-bottom-style:none!important; } td { vertical-align:top; } .time { width:30%; font-weight:600; } .talk { font-weight:600; } </style></div> </div> </div> <div class="content-section__right col-2"> <div class="block block-ctools block-entity-viewnode"> <article about="/rare-disease-day" class="node node--type-section-page node--promoted node--view-mode-sidebar"> <div class="node__content"> <div class="sidebar-group"> <div class="sidebar-group__title"> <div class="block block-layout-builder block-field-blocknodesection-pagefield-gsp-title-links"> <div class="clearfix text-formatted field field--name-field-gsp-title-links field--type-text field--label-hidden field__item"><p>Related</p> </div> </div> </div> <div class="sidebar-group__content"> <div class="block block-layout-builder block-field-blocknodesection-pagefield-gsp-links"> <div class="field field--name-field-gsp-links field--type-link field--label-hidden field__items"> <div class="field__item"><a href="/blog/putting-face-rare-disease">Putting a face on rare disease</a></div> <div class="field__item"><a href="/podcast/rare-disease-research-inspired-patient-care-anna-greka">Rare disease research inspired by patient care, with Anna Greka</a></div> <div class="field__item"><a href="https://youtu.be/Mq2VK_DuBuU">Beyond the Diagnosis video</a></div> </div> </div> </div> </div> <div class="sidebar-group"> <div class="sidebar-group__content"> <div class="block block-layout-builder block-field-blocknodesection-pagefield-gsp-extra-info"> <div class="clearfix text-formatted field field--name-field-gsp-extra-info field--type-text-long field--label-hidden field__item"><h2 style="color:#0f6db7;padding-top:11px;">Rare Disease Day 2026</h2> <ul> <li style="display:none;" data-list-item-id="e444db12c1a1a6df0f4a388ca0034e277"><a target="_blank" href="#">Register</a></li> <li data-list-item-id="e66d58e874ba598a28a053ce37e7aa663"><a href="#past">Past Focus on Rare Disease Events</a></li> <li data-list-item-id="e86ff18455e41d79e925ab657a762ceff"><a href="#vgt">Virtual Gallery Tour</a></li> </ul> </div> </div> </div> </div> </div> </article> </div> </div> </div> </div> Wed, 21 Jun 2023 16:58:24 +0000 adicorat 1282381 at