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</div> </nav> </header> <main class="main-content usa-layout-docs usa-section " role="main" id="main-content"> <div class="grid-container-"> <div class="grid-row"> </div> <div class=""> </div> <div class="grid-row "> </div> <div class="grid-row grid-gap"> <div class="usa-layout-docs__main desktop:grid-col-fill"> <div class=""> <div data-drupal-messages-fallback class="hidden"></div> <div id="block-d9-subtheme-content" class="block block-system block-system-main-block"> <article data-history-node-id="46965"> <div> <div class="container layout layout--onecol"> <div class="layout__region layout__region--content"> <div class="block block-system block-system-breadcrumb-block"> <nav class="usa-breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="usa-sr-only">Breadcrumb</h2> <ol class="usa-breadcrumb__list"> <li class="usa-breadcrumb__list-item"> <a href="/" class="usa-breadcrumb__link"><span>Home</span></a> </li> <li 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auto; } .sidebar-right-mod { width: 100% !important; @media (min-width: 992px) { width: 50% !important; } } .usa-modal--lg { max-width: 80rem !important; } .usa-modal--lg .usa-modal__main { max-width: 70rem !important; } a#modal-link { display: block; } </style><div class="sidebar-right sidebar-right-mod"><div class="image-box"><p><a href="#dm-modal-1" id="modal-link" aria-controls="dm-modal-1" data-open-modal><img class="img-responsive" src="http://ncats.nih.gov/sites/default/files/2024-11/NCATS-Rare-Diseases-Infographic-November-2024-508_800x640.png" alt="Rare Diseases: Individually Rare, Collectively Common. NCATS is developing new approaches to diagnose and treat people with rare diseases more quickly. NCATS logo. Resources. Providing high-quality, widely used resources like the Genetic and Rare Diseases Information Center (GARD), to educate, engage and empower the rare diseases community. Getting an accurate rare disease diagnosis can take more than 6 years, on average, leading to higher healthcare costs. GARD staff have answered about 120,000 questions. Capabilities. Developing platform technologies like high-throughput drug screening and gene-targeted therapies, that address many rare diseases at a time. Funding. Funding nationwide and international programs, like the Rare Diseases Clinical Research Network (RDCRN), to accelerate medical research across rare diseases. There are more than 10,000 rare diseases and only 5% of them have treatments. The RDCRN has helped move 12 rare disease treatments to the clinic." width="800" height="640"></a></p><div class="caption-text"><p>NCATS is developing new approaches to diagnose and treat people with rare diseases more quickly through resources, capabilities, and funding. <em>(NCATS)</em></p><p><a href="#dm-modal-1" aria-controls="dm-modal-1" data-open-modal>Click to view larger image</a>.</p></div></div></div><div class="usa-modal usa-modal--lg" id="dm-modal-1" aria-labelledby="dm-modal-1-heading" aria-describedby="dm-modal-1-description"><div class="usa-modal__content"><div class="usa-modal__main" style="padding:0 2rem 2rem;"><img class src="/sites/default/files/2024-11/NCATS-Rare-Diseases-Infographic-November-2024-508_1600x1280.jpg" alt="Rare Diseases: Individually Rare, Collectively Common. NCATS is developing new approaches to diagnose and treat people with rare diseases more quickly. NCATS logo. Resources. Providing high-quality, widely used resources like the Genetic and Rare Diseases Information Center (GARD), to educate, engage and empower the rare diseases community. Getting an accurate rare disease diagnosis can take more than 6 years, on average, leading to higher healthcare costs. GARD staff have answered about 120,000 questions. Capabilities. Developing platform technologies like high-throughput drug screening and gene-targeted therapies, that address many rare diseases at a time. Funding. Funding nationwide and international programs, like the Rare Diseases Clinical Research Network (RDCRN), to accelerate medical research across rare diseases. There are more than 10,000 rare diseases and only 5% of them have treatments. The RDCRN has helped move 12 rare disease treatments to the clinic." width="100%" height="100%"><div class="usa-modal__footer"><ul class="usa-button-group"><li class="usa-button-group__item"><button class="usa-button--unstyled padding-105 text-center" style="font-size:18px;" type="button" data-close-modal>Close</button></li></ul></div></div></div></div><p>The term “rare disease” can be a misnomer. While there are more than 10,000 diseases that are individually rare, they collectively affect millions of people worldwide.</p><p>The burden for people with a rare disease is significant, as I outlined in my <a href="https://directorsblog.nih.gov/author/joni-rutter-ph-d-national-center-for-advancing-translational-sciences/">NIH Director’s Blog post</a>. Most rare diseases start in childhood. However, only about 5% of all rare diseases have U.S. Food and Drug Administration-approved treatments. Countless doctor visits, tests, referrals, and — even worse — wrong diagnoses take a large toll on patients and their families. This journey also leaves them with <a href="https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-02061-3">annual health care costs three to five times greater</a> than those for a person without a rare disease.</p><p>Advancing the development of and access to more treatments for diseases with unmet needs is a <a href="/about/ncats-overview/strategic-plan">strategic priority</a> for us, and finding solutions for rare diseases is a perfect fit for <a href="/about/about-translational-science">translational science</a>. This field addresses the scientific and operational roadblocks that slow progress. It also makes the way research is done faster, more efficient, and more impactful.</p><p>By using translational science approaches, we’ve made a lot of <a href="/research/our-impact/our-impact-rare-diseases">progress</a> in rare diseases research — from moving dozens of promising treatments from the lab to the clinic to providing widely used <a href="/resources/for-rare-disease-patients-and-advocates">community resources</a>. But as research capabilities and knowledge keep growing, so too does the to-do list. Key areas we’re actively working on include:</p><ul><li>Understanding rare disease biology and therapeutic targets, especially common features</li><li>Building platform approaches that advance drug discovery and development efforts for many diseases</li><li>De-risking promising new treatments so they’re more attractive for commercial development</li><li>Leveraging new technologies, such as AI/machine learning and whole-genome sequencing, to improve diagnostic approaches</li><li>Modernizing clinical trial approaches for gene therapies and other newer treatment modalities</li><li>Bringing partners together to ensure health solutions reach the people who need them the most</li></ul><p>In my new Director’s Message series, I will cover major pain points, progress, and priorities in rare diseases research across the translational pipeline. I hope you find the messages informative and that they spark new conversations on ways we can work together to address the public health challenge of rare diseases.</p><p>Your partner in science and health,</p><p><strong>Joni L. 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