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They also study patterns of trait or disease inheritance in families, in addition to analyzing so-called “isolated populations,” such as Finland. Resources used in the study of rare disease include data from the 1000 Genomes Project and the Exome Aggregation Consortium (ExAC)." /> <link rel="shortlink" href="https://www.broadinstitute.org/node/8512" /> <link rel="canonical" href="https://www.broadinstitute.org/rare-disease" /> <link rel="image_src" href="https://www.broadinstitute.org/files/landing-page/featured/image/RareDisease_Duchenne_385x300.jpg" /> <meta property="og:site_name" content="@broadinstitute" /> <meta property="og:type" content="article" /> <meta property="og:url" content="https://www.broadinstitute.org/rare-disease" /> <meta property="og:title" content="Rare disease" /> <meta property="og:description" content="Broad scientists employ a variety of approaches, including DNA and RNA sequencing, to identify genetic variants that give rise to rare disease. They also study patterns of trait or disease inheritance in families, in addition to analyzing so-called “isolated populations,” such as Finland. Resources used in the study of rare disease include data from the 1000 Genomes Project and the Exome Aggregation Consortium (ExAC)." /> <meta property="og:image" content="https://www.broadinstitute.org/files/landing-page/featured/image/RareDisease_Duchenne_385x300.jpg" /> <meta property="og:image:url" content="https://www.broadinstitute.org/files/landing-page/featured/image/RareDisease_Duchenne_385x300.jpg" /> <meta property="og:image:secure_url" content="https://www.broadinstitute.org/files/landing-page/featured/image/RareDisease_Duchenne_385x300.jpg" /> <meta property="og:updated_time" content="2022-12-28T19:40:42-05:00" /> <meta property="article:published_time" content="2015-12-15T18:30:50-05:00" /> <meta property="article:modified_time" content="2015-12-15T18:30:50-05:00" /> <meta name="twitter:card" content="summary" /> <meta name="twitter:title" content="Rare disease" /> <meta name="twitter:description" content="Broad scientists employ a variety of approaches, including DNA and RNA sequencing, to identify genetic variants that give rise to rare disease. 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Resources used in the study of rare disease include data from the 1000 Genomes Project and the Exome Aggregation Consortium (ExAC)." /> <meta name="twitter:site" content="@broadinstitute" /> <meta name="twitter:creator" content="@broadinstitute" /> <meta name="twitter:image" content="https://www.broadinstitute.org/files/landing-page/featured/image/RareDisease_Duchenne_385x300.jpg" /> <meta name="Generator" content="Drupal 10 (https://www.drupal.org)" /> <meta name="MobileOptimized" content="width" /> <meta name="HandheldFriendly" content="true" /> <meta name="viewport" content="width=device-width, initial-scale=1.0" /> <link rel="icon" href="/themes/custom/broad/favicon.ico" type="image/vnd.microsoft.icon" /> <title>Rare disease | Broad Institute</title> <link rel="stylesheet" media="all" 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class="hero-section container"> <div class="hero-section__row row"> <div class="hero-section__content hero-section__content_left col-6"> <div class="hero-section__breadcrumbs"> <div class="block block-system block-system-breadcrumb-block"> <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> <li> <a href="/disease-areas">Disease Areas</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodelanding-pagetitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Rare disease</h1> </span> </div> </div> <div class="hero-section__description"> <div class="block block-layout-builder block-field-blocknodelanding-pagefield-featured-description"> <div class="clearfix text-formatted field field--name-field-featured-description field--type-text-long field--label-hidden field__item"><p dir="ltr">Broad researchers study several rare inherited diseases, including muscle disorders, mitochondrial disorders, and kidney disease. Knowledge about risk factors for rare genetic diseases has the potential to illuminate the biology underlying these diseases, to improve the lives of patients through new diagnostic and therapeutic possibilities, and to shed light on related common diseases.</p> </div> </div> </div> </div> <div class="hero-section__right col-6"> <div class="hero-section__image"> <div class="block block-layout-builder block-field-blocknodelanding-pagefield-image"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"> <article class="media media--type-image media--view-mode-multiple-content-types-header"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/landing-page/featured/image/RareDisease_Duchenne_385x300.jpg?itok=1j71Htjt 1x" media="all and (min-width: 1921px)" type="image/jpeg" width="754" height="503"/> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/landing-page/featured/image/RareDisease_Duchenne_385x300.jpg?itok=1j71Htjt 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/jpeg" width="754" height="503"/> <source srcset="/files/styles/multiple_ct_header_desktop/public/landing-page/featured/image/RareDisease_Duchenne_385x300.jpg?itok=NTYk-LR6 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/jpeg" width="736" height="520"/> <source srcset="/files/styles/multiple_ct_header_laptop/public/landing-page/featured/image/RareDisease_Duchenne_385x300.jpg?itok=ncgJw46u 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/jpeg" width="641" height="451"/> <source srcset="/files/styles/multiple_ct_header_tablet/public/landing-page/featured/image/RareDisease_Duchenne_385x300.jpg?itok=deCAVRPc 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/jpeg" width="706" height="417"/> <source srcset="/files/styles/multiple_ct_header_phone/public/landing-page/featured/image/RareDisease_Duchenne_385x300.jpg?itok=39vNFQhk 1x" media="all and (max-width: 539px)" type="image/jpeg" width="499" height="294"/> <img loading="eager" src="/files/styles/multiple_ct_header_phone/public/landing-page/featured/image/RareDisease_Duchenne_385x300.jpg?itok=39vNFQhk" width="499" height="294" alt="" typeof="foaf:Image" /> </picture> </div> </article> </div> </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-blocknodelanding-pagebody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p dir="ltr">Broad scientists employ a variety of approaches, including DNA and RNA sequencing, to identify genetic variants that give rise to rare disease. They also study patterns of trait or disease inheritance in families, in addition to analyzing so-called “isolated populations,” such as <a href="/news/5940">Finland</a>. Resources used in the study of rare disease include data from the <a href="/news/4475">1000 Genomes Project</a> and the <a href="http://exac.broadinstitute.org/" target="_blank">Exome Aggregation Consortium (ExAC)</a>. Many of these efforts are coordinated by the Broad’s Program in Medical and Population Genetics.</p> <p dir="ltr">The Broad’s <a href="http://genomics.broadinstitute.org/products/clinical-research-sequencing-platform-crsp" target="_blank">Clinical Research Sequencing Platform (CRSP)</a> also performs genetic sequencing of patients with rare disorders, producing data for research or clinical use.</p> <p dir="ltr">The <a href="https://cmg.broadinstitute.org/">Broad Center for Mendelian Genomics</a>, which launched in January 2016, is focused on large-scale sequencing of patients with rare diseases, in collaboration with many clinical investigators.</p> </div> </div> </div> <div class="content-section__right col-2"> <div class="open block block-broad-menu-reference block-broad-menu-blockadmin"> <h2>Areas of Focus</h2> <ul class="menu"> <li class="menu-item"> <a href="/rare-diseases/mitochondrial-disease" data-drupal-link-system-path="node/8720">Mitochondrial Disease</a> </li> <li class="menu-item"> <a href="/rare-diseases/cardiovascular-disease" data-drupal-link-system-path="node/8722">Cardiovascular Disease</a> </li> <li class="menu-item"> <a href="/rare-diseases/eye-disease" data-drupal-link-system-path="node/8723">Eye Disease</a> </li> <li class="menu-item"> <a href="/rare-diseases/muc1-kidney-disease-mkd" data-drupal-link-system-path="node/8719">Kidney Disease</a> </li> </ul> </div> <div class="block block-ctools block-entity-viewnode"> <article about="/rare-disease" class="node node--type-landing-page 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-blocknodelanding-pagefield-sidebar-title"> <div class="clearfix text-formatted field field--name-field-sidebar-title field--type-text field--label-hidden field__item"><p>Video</p> </div> </div> </div> <div class="sidebar-group__content"> <div class="block block-layout-builder block-field-blocknodelanding-pagefield-sidebar-text"> <div class="clearfix text-formatted field field--name-field-sidebar-text field--type-text-long field--label-hidden field__item"><p>Video recording of <em>Focus on Rare Disease: New Hope for Kidney Diseases - </em>Broad Institute’s third annual mini-symposium (Feb 2018)</p> <p><iframe allowfullscreen="true" allowtransparency="true" frameborder="0" height="315" scrolling="no" src="https://www.facebook.com/plugins/video.php?href=https%3A%2F%2Fwww.facebook.com%2Fbroadinstitute%2Fvideos%2F1997887503584703%2F&show_text=0&width=560" style="border:none;overflow:hidden" width="100%"></iframe></p> <p> </p> </div> </div> </div> </div> <div class="sidebar-group"> <div class="sidebar-group__content"> <div class="block block-layout-builder block-field-blocknodelanding-pagefield-featured-link"> <div class="field field--name-field-featured-link field--type-link field--label-hidden field__items"> <div class="field__item"><a href="https://www.broadinstitute.org/faa">Friedreich’s Ataxia Accelerator</a></div> </div> </div> </div> </div> </div> </article> </div> </div> </div> </div> <div class="content-section container"> <div class="content-section__main"> <div class="views-element-container block block-views block-views-blockrelated-publications-list-more-link"> <div class="publications-list-wrapper"> <div class="publications-list-wrapper__title"> <h2>Recent publications</h2> <div class="more-link"> <a href="/publications-list/619">Other Rare Disease publications</a> </div> </div> <div><div class="view view-related-publications view-id-related_publications view-display-id-list_more_link js-view-dom-id-9909dbe1aba5918a10cba7938bfb9881f733257ac387041863f5ae62f6fb047a"> <div class="view-content"> <div class="views-row"><div class="views-field views-field-title"><span class="field-content"><a href="/publications/broad8173" hreflang="en">Diagnosis and etiology of congenital muscular dystrophy: We are halfway 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block-layout-builder block-field-blocknodelong-storytitle"> <span class="field field--name-title field--type-string field--label-hidden"><a href="/news/researchers-engineer-vivo-delivery-system-prime-editing-partially-restoring-vision-mice" hreflang="en">Researchers engineer in vivo delivery system for prime editing, partially restoring vision in mice</a></span> </div> <div class="block-teaser-link block block-layout-builder block-extra-field-blocknodelong-storyextra-field-readmore"> <div class="field field--name-extra-field-readmore field--type-extra-field field--label-hidden field__items"> <div class="field__item"><a href="https://www.broadinstitute.org/news/researchers-engineer-vivo-delivery-system-prime-editing-partially-restoring-vision-mice" hreflang="en">Read more</a></div> </div> </div> </div> </div> </div> </article> </div> <div class="slick__slide slide slide--1"> <article about="/news/approach-studies-how-rare-gene-variant-pairs-contribute-disease" class="node 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<div class="field field--name-field-preview-image field--type-entity-reference field--label-hidden field__item"><article class="media media--type-image media--view-mode-multiple-ct-teaser-related-items"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <a href="https://www.broadinstitute.org/news/whyiscience-qa-computational-biologist-helps-build-datasets-genetic-disease-diagnosis"><picture> <source srcset="/files/styles/multiple_ct_teaser_related_items_desktop/public/longstory/Katherine_Chao_2023-11.jpg?itok=ElVlHIgz 1x" media="all and (min-width: 1921px)" type="image/jpeg" width="768" height="400"/> <source srcset="/files/styles/multiple_ct_teaser_related_items_desktop/public/longstory/Katherine_Chao_2023-11.jpg?itok=ElVlHIgz 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/jpeg" width="768" height="400"/> <source 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src="/files/styles/multiple_ct_teaser_related_items_phone/public/longstory/Katherine_Chao_2023-11.jpg?itok=Ym2EnN3v" width="500" height="400" alt="Portrait of Katherine Chao" title="Portrait of Katherine Chao" typeof="foaf:Image" /> </picture></a> </div> </article> </div> </div> </div> <div class="layout__region layout__region--second"> <div class="block-teaser-date block block-layout-builder block-extra-field-blocknodelong-storyextra-field-news-tag-date"> <a href="/news/whyiscience-qa-computational-biologist-helps-build-datasets-genetic-disease-diagnosis">Blog 08.17.2023</a> </div> <div class="block-teaser-title block block-layout-builder block-field-blocknodelong-storytitle"> <span class="field field--name-title field--type-string field--label-hidden"><a href="/news/whyiscience-qa-computational-biologist-helps-build-datasets-genetic-disease-diagnosis" hreflang="en">#WhyIScience Q&A: A computational biologist helps build datasets for genetic disease diagnosis</a></span> </div> <div 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srcset="/files/styles/multiple_ct_teaser_related_items_desktop/public/longstory/Hypoxia_story_736x520_v3.png?itok=FZcO9JkA 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/png" width="768" height="400"/> <source srcset="/files/styles/multiple_ct_teaser_related_items_laptop/public/longstory/Hypoxia_story_736x520_v3.png?itok=Uxjggtxd 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/png" width="610" height="400"/> <source srcset="/files/styles/multiple_ct_teaser_related_items_tablet/public/longstory/Hypoxia_story_736x520_v3.png?itok=z0KwoEIe 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/png" width="735" height="400"/> <source srcset="/files/styles/multiple_ct_teaser_related_items_phone/public/longstory/Hypoxia_story_736x520_v3.png?itok=-ddpw-ln 1x" media="all and (max-width: 539px)" type="image/png" width="500" height="400"/> <img loading="eager" src="/files/styles/multiple_ct_teaser_related_items_phone/public/longstory/Hypoxia_story_736x520_v3.png?itok=-ddpw-ln" width="500" height="400" alt="A graphic showing tents at the base of a mountain range, and a meter showing low oxygen levels." title="A graphic showing tents at the base of a mountain range, and a meter showing low oxygen levels." typeof="foaf:Image" /> </picture></a> </div> </article> </div> </div> </div> <div class="layout__region layout__region--second"> <div class="block-teaser-date block block-layout-builder block-extra-field-blocknodelong-storyextra-field-news-tag-date"> <a href="/news/low-oxygen-levels-restore-balance-and-coordination-mouse-model-movement-disorder">News 06.21.2023</a> </div> <div class="block-teaser-title block block-layout-builder block-field-blocknodelong-storytitle"> <span class="field field--name-title field--type-string field--label-hidden"><a href="/news/low-oxygen-levels-restore-balance-and-coordination-mouse-model-movement-disorder" hreflang="en">Low oxygen levels restore balance and coordination in a mouse model of a movement disorder</a></span> </div> <div class="block-teaser-link block block-layout-builder block-extra-field-blocknodelong-storyextra-field-readmore"> <div class="field field--name-extra-field-readmore field--type-extra-field field--label-hidden field__items"> <div class="field__item"><a href="https://www.broadinstitute.org/news/low-oxygen-levels-restore-balance-and-coordination-mouse-model-movement-disorder" hreflang="en">Read more</a></div> </div> </div> </div> </div> </div> </article> </div> <div class="slick__slide slide slide--4"> <article about="/news/blood-stem-cells-are-susceptible-ferroptosis-type-cell-death" class="node node--type-long-story node--promoted node--view-mode-teaser-related-items"> <div class="node__content"> <div class="layout layout--twocol-section layout--twocol-section--50-50"> <div class="layout__region layout__region--first"> <div class="block-teaser-image block block-layout-builder block-field-blocknodelong-storyfield-preview-image"> <div class="field field--name-field-preview-image field--type-entity-reference field--label-hidden field__item"><article class="media media--type-image media--view-mode-multiple-ct-teaser-related-items"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <a href="https://www.broadinstitute.org/news/blood-stem-cells-are-susceptible-ferroptosis-type-cell-death"><picture> <source srcset="/files/styles/multiple_ct_teaser_related_items_desktop/public/longstory/main_Jiawei_5060_KO032.png?itok=LMNs0YOB 1x" media="all and (min-width: 1921px)" type="image/png" width="768" height="400"/> <source srcset="/files/styles/multiple_ct_teaser_related_items_desktop/public/longstory/main_Jiawei_5060_KO032.png?itok=LMNs0YOB 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/png" width="768" height="400"/> <source srcset="/files/styles/multiple_ct_teaser_related_items_desktop/public/longstory/main_Jiawei_5060_KO032.png?itok=LMNs0YOB 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/png" width="768" height="400"/> <source srcset="/files/styles/multiple_ct_teaser_related_items_laptop/public/longstory/main_Jiawei_5060_KO032.png?itok=V5Rd5rjV 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/png" width="610" height="400"/> <source srcset="/files/styles/multiple_ct_teaser_related_items_tablet/public/longstory/main_Jiawei_5060_KO032.png?itok=3ukd2ySy 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/png" width="735" height="400"/> <source srcset="/files/styles/multiple_ct_teaser_related_items_phone/public/longstory/main_Jiawei_5060_KO032.png?itok=rtgj5U9y 1x" media="all and (max-width: 539px)" type="image/png" width="500" height="400"/> <img loading="eager" src="/files/styles/multiple_ct_teaser_related_items_phone/public/longstory/main_Jiawei_5060_KO032.png?itok=rtgj5U9y" width="500" height="400" alt="Electron microscopy image of a human hematopoietic stem cell showing hallmarks of ferroptosis, including shrunken mitochondria with fewer inner membrane folds." title="Electron microscopy image of a human hematopoietic stem cell showing hallmarks of ferroptosis, including shrunken mitochondria with fewer inner membrane folds." typeof="foaf:Image" /> </picture></a> </div> </article> </div> </div> </div> <div class="layout__region layout__region--second"> <div class="block-teaser-date block block-layout-builder block-extra-field-blocknodelong-storyextra-field-news-tag-date"> <a href="/news/blood-stem-cells-are-susceptible-ferroptosis-type-cell-death">News 02.16.2023</a> </div> <div class="block-teaser-title block block-layout-builder block-field-blocknodelong-storytitle"> <span class="field field--name-title field--type-string field--label-hidden"><a href="/news/blood-stem-cells-are-susceptible-ferroptosis-type-cell-death" hreflang="en">Blood stem cells are susceptible to ferroptosis, a type of cell death</a></span> </div> <div class="block-teaser-link block block-layout-builder block-extra-field-blocknodelong-storyextra-field-readmore"> <div class="field field--name-extra-field-readmore field--type-extra-field field--label-hidden field__items"> <div class="field__item"><a href="https://www.broadinstitute.org/news/blood-stem-cells-are-susceptible-ferroptosis-type-cell-death" hreflang="en">Read more</a></div> </div> </div> </div> </div> </div> </article> </div> </div> <nav role="navigation" class="slick__arrow"> <button type="button" data-role="none" class="slick-prev" aria-label="Previous" tabindex="0">Previous</button><button type="button" data-role="none" class="slick-next" aria-label="Next" tabindex="0">Next</button> </nav> </div> </div> </div> </div> </div> </div> <div class="views-element-container 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