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<span>Our Impact On Rare Diseases</span>
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<h1>Our Impact on Rare Diseases</h1>
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NCATS is the heart of rare diseases research at NIH. We speed the development of new rare disease treatments by focusing on approaches that can address more than one disease at a time.
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<li class="first">
|
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<a href="/research/our-impact/our-impact-big-data" class="first" data-drupal-link-system-path="node/27395">Big Data</a>
|
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|
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<a href="/research/our-impact/our-impact-clinical-trials" data-drupal-link-system-path="node/27434">Clinical Trials</a>
|
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</li>
|
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<li>
|
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<a href="/research/our-impact/our-impact-drug-discovery-and-development" data-drupal-link-system-path="node/27394">Drug Discovery and Development</a>
|
||
</li>
|
||
<li class="active active-trail">
|
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<a href="/research/our-impact/our-impact-rare-diseases" class="active active-trail active-trail is-active" data-drupal-link-system-path="node/27393">Rare Diseases</a>
|
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|
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|
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<a href="/research/our-impact/our-impact-research-operations" data-drupal-link-system-path="node/27413">Research Operations</a>
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<a href="/research/our-impact/our-impact-tools-and-technologies" class="last" data-drupal-link-system-path="node/27396">Tools and Technologies</a>
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</div>
|
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|
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<section>
|
||
<div class="container news-content Advancing">
|
||
<h2 class="section-heading">Delivering Hope for Rare Diseases</h2>
|
||
|
||
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||
<div class="paragraph paragraph--type--body-content paragraph--view-mode--default">
|
||
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||
|
||
<div class="sidebar-right"><div class="image-box"><img src="/sites/default/files/styles/large/public/2023-09/Our_Impact-Amber.png?itok=Ypo8SPKA" alt width="413" height="273"><div class="caption-text"><p>Image of nine-year old Amber, who is part of gene therapy trial at the NIH Clinical Center and resident of The Children's Inn at NIH, with her parents and the CEO of The Children's Inn at NIH. (Daniel Soñé Photography)</p></div></div></div><p>There are more than 10,000 known rare diseases and only a few hundred have safe, effective treatments. In the United States, rare diseases affect millions of people. </p><p>We are working hard to address the significant and often unmet needs of those affected by rare diseases. Through our research programs and other activities, we partner with patients, advocates, clinicians and researchers. Together, we have moved promising therapies into clinical trials, advanced therapeutic development tools and technologies, created widely used informational resources, and raised awareness of the rare disease public health challenge. </p><p>Our research priorities include shortening the time to diagnosis, spurring multiple treatments at a time, and making it easier and more efficient for scientists to discover and develop rare disease therapies. Because most rare diseases are genetic, we are especially focused on developing gene-targeted approaches for treating groups of rare diseases. We are also leveraging newer approaches, such as genetic analysis and machine learning, to help health care providers diagnose people with rare diseases and help people with rare diseases access the most current and reliable information. </p><p><a href="/research/our-impact">Explore All Areas of Our Impact</a></p>
|
||
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||
</div>
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<hr class="section-divider">
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</div>
|
||
</section>
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<section>
|
||
<div class="container news-content Advancing">
|
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<h2 class="section-heading">Impact Stories</h2>
|
||
|
||
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||
<div class="row vertical-line two-col">
|
||
<div class="col-xl-6 col-wrap">
|
||
<div class="pe-lg-4 p-0 col">
|
||
|
||
|
||
<h2>New FDA Designations May Jumpstart Gene Therapy Development</h2>
|
||
<img src="/sites/default/files/2024-11/New%20BGTC%20620x275_Shutterstock_2403557655.png" class="w-100 mt-2">
|
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<div class="description pt-4">
|
||
|
||
<p>New FDA designations granted to NCATS for rare disease therapies provide financial incentives for companies to further develop treatments.</p>
|
||
</div>
|
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|
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<div class="text-center button-wrap">
|
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<button class="buttons btn-1 mt-4"><a href="/news-events/news/new-fda-designations-may-jumpstart-gene-therapy-development">Read More</a></button>
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<div class="col-xl-6 col-wrap">
|
||
<div class="ps-lg-4 p-0 col">
|
||
|
||
|
||
<h2>NCATS Helped Develop a Gene Therapy for a Rare Brain Disorder</h2>
|
||
<img src="/sites/default/files/2024-12/TDB-TRND-AADC_620x275.jpg" class="w-100 mt-2">
|
||
<div class="description pt-4">
|
||
|
||
<p>NCATS’ Therapeutics for Rare and Neglected Diseases (TRND) program helped develop a recently approved gene therapy for a rare genetic brain disorder.</p>
|
||
</div>
|
||
|
||
<div class="text-center button-wrap">
|
||
<button class="buttons btn-1 mt-4"><a href="/news-events/news/ncats-researchers-help-gene-therapy-aadc-deficiency-gain-fda-approval">Read More</a></button>
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</div>
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||
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||
<hr class="section-divider">
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||
</div>
|
||
</section>
|
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<section>
|
||
<div class="container news-content Advancing">
|
||
<h2 class="section-heading">Rare Diseases Research Activities</h2>
|
||
<div class="description">
|
||
|
||
<p><meta charset="utf-8"><span style="white-space:pre-wrap;">We are addressing the public health challenges posed by rare diseases through a variety of collaborative research efforts. </span></p>
|
||
</div>
|
||
|
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|
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<div class="row mb-4 three-pic-cards">
|
||
|
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|
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<div class="col-xl-4 ps-xl-3 mb-4">
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<div class="card border-0 p-0 radius-10 h-100">
|
||
<div class="row p-20 g-4 align-items-stretch">
|
||
<div class="col-xl-12 col-lg-6">
|
||
<img src="/sites/default/files/2023-09/shutterstock_542582740_746x370.png" class="img-fluid">
|
||
</div>
|
||
<div class="col-xl-12 col-lg-6">
|
||
<div class="card-body px-0 pt-0">
|
||
<h3 class="">Bespoke Gene Therapy Consortium</h3>
|
||
<p class="py-xl-0 py-lg-4 py-md-4 py-sm-4 py-2">
|
||
|
||
<p><meta charset="utf-8"><span style="white-space:pre-wrap;">The Bespoke Gene Therapy Consortium (BGTC) focuses on developing platforms and standards to speed the development and delivery of gene therapies for rare diseases. </span></p>
|
||
|
||
</p>
|
||
</div>
|
||
<div class="card-footer bg-white border-0 p-0">
|
||
<a href="/research/research-activities/bgtc">Learn More</a>
|
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|
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</div>
|
||
</div>
|
||
<div class="col-xl-4 ps-xl-3 mb-4">
|
||
<div class="card border-0 p-0 radius-10 h-100">
|
||
<div class="row p-20 g-4 align-items-stretch">
|
||
<div class="col-xl-12 col-lg-6">
|
||
<img src="/sites/default/files/2023-09/TRND_746x370.png" class="img-fluid">
|
||
</div>
|
||
<div class="col-xl-12 col-lg-6">
|
||
<div class="card-body px-0 pt-0">
|
||
<h3 class="">Therapeutics for Rare and Neglected Diseases (TRND)</h3>
|
||
<p class="py-xl-0 py-lg-4 py-md-4 py-sm-4 py-2">
|
||
|
||
<p><meta charset="utf-8"><span style="white-space:pre-wrap;">The TRND program moves basic research discoveries in the lab closer to becoming new drugs.</span></p>
|
||
|
||
</p>
|
||
</div>
|
||
<div class="card-footer bg-white border-0 p-0">
|
||
<a href="/research/research-activities/TRND">Learn More</a>
|
||
</div>
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||
</div>
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|
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</div>
|
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</div>
|
||
</div>
|
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<div class="col-xl-4 ps-xl-3 mb-4">
|
||
<div class="card border-0 p-0 radius-10 h-100">
|
||
<div class="row p-20 g-4 align-items-stretch">
|
||
<div class="col-xl-12 col-lg-6">
|
||
<img src="/sites/default/files/2024-05/RDCRN_746x370_0.png" class="img-fluid">
|
||
</div>
|
||
<div class="col-xl-12 col-lg-6">
|
||
<div class="card-body px-0 pt-0">
|
||
<h3 class="">Rare Diseases Clinical Research Network (RDCRN)</h3>
|
||
<p class="py-xl-0 py-lg-4 py-md-4 py-sm-4 py-2">
|
||
|
||
<p><meta charset="utf-8"><span style="white-space:pre-wrap;">The RDCRN brings scientists together with rare disease organizations to study more than 200 rare diseases at sites across the country. </span></p>
|
||
|
||
</p>
|
||
</div>
|
||
<div class="card-footer bg-white border-0 p-0">
|
||
<a href="/research/research-activities/rdcrn">Learn More</a>
|
||
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</div>
|
||
</div>
|
||
|
||
|
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</div>
|
||
<div class="text-center button-wrap">
|
||
<button class="buttons btn-1 mt-4"><a href="/research/research-activities?research_topics%5B0%5D=7">See All Rare Diseases Activities</a></button>
|
||
</div>
|
||
|
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|
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|
||
</div>
|
||
</section>
|
||
<section>
|
||
<div class="container news-content Advancing">
|
||
<h2 class="section-heading">Rare Diseases Research News</h2>
|
||
|
||
|
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<div class="paragraph paragraph--type--view paragraph--view-mode--default">
|
||
|
||
|
||
<div class="views-element-container"><div class="row col js-view-dom-id-e8e6a92c94ca99978a89d91d981260de14469989c7f5a7255c9fadfe72828fca">
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||
|
||
|
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<div class="views-element-container"><div class="row col js-view-dom-id-c28ac26666605074d6f81933f3e01f64126752083aa6cf030d38fb6112cbb17f">
|
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|
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|
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<div class="mb-4 featured views-row"><div class="featured usa-card__container mb-4 p-4">
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||
<div class="row">
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<div class="col-md-4 col-lg-2">
|
||
|
||
|
||
<img loading="lazy" src="/sites/default/files/styles/media_library/public/shutterstock_1959330751_900w.png?itok=GDRKKwcC" width="220" height="124" alt="3D illustration of a human brain and a DNA strand." />
|
||
|
||
|
||
|
||
|
||
</div>
|
||
<div class="col-md-8 col-lg-10">
|
||
<h3 class="title">A Combination of Tests Shows Learning Capabilities of Nonverbal Children with Rare Brain Disorder</h3>
|
||
<p class="m-0"><i>February 25, 2025 - NCATS News</i>
|
||
</p>
|
||
<ul class="list-pipe">
|
||
<li><i>Our Impact on Rare Diseases</i></li>
|
||
<li><i>Rare Diseases Clinical Research Network (RDCRN)</i></li>
|
||
</ul>
|
||
|
||
|
||
<p>NCATS-funded scientists found that a pair of tests can measure nonverbal learning skills and show the cognitive abilities of children with Aicardi-Goutières syndrome. The tests could improve the support and therapy doctors provide.</p>
|
||
|
||
<a href="https://ncats.nih.gov/news-events/news/a-combination-of-tests-shows-learning-capabilities-of-nonverbal-children-with-rare-brain-disorder">Read Article</a>
|
||
</div>
|
||
</div>
|
||
</div></div>
|
||
|
||
|
||
|
||
|
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|
||
|
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|
||
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="col-sm-4 mb-4 views-row"><div class="usa-card__container">
|
||
<div class="usa-card__body">
|
||
<h3 class="title">AI Tool Helps Find Life-Saving Medicine for Rare Disease</h3>
|
||
<p class="m-0"><i>February 5, 2025 - Grantee/Partner News</i>
|
||
</p>
|
||
<ul class="list-pipe">
|
||
<li><i>Biomedical Data Translator (Translator)</i></li>
|
||
<li><i>Our Impact on Rare Diseases</i></li>
|
||
</ul>
|
||
|
||
</div>
|
||
<div class="usa-card__footer">
|
||
<a href="https://www.pennmedicine.org/news/news-releases/2025/february/ai-tool-helps-find-life-saving-medicine-for-rare-disease">Read Article</a>
|
||
</div>
|
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</div>
|
||
</div>
|
||
<div class="col-sm-4 mb-4 views-row"><div class="usa-card__container">
|
||
<div class="usa-card__body">
|
||
<h3 class="title">New Path for a Gene Therapy Trial at NIH for a Rare Metabolic Disease</h3>
|
||
<p class="m-0"><i>November 19, 2024 - NCATS News</i>
|
||
</p>
|
||
<ul class="list-pipe">
|
||
<li><i>Bespoke Gene Therapy Consortium (BGTC)</i></li>
|
||
<li><i>Our Impact on Clinical Trials</i></li>
|
||
<li><i>Our Impact on Drug Discovery and Development</i></li>
|
||
<li><i>Our Impact on Rare Diseases</i></li>
|
||
<li><i>Platform Vector Gene Therapy (PaVe-GT)</i></li>
|
||
</ul>
|
||
|
||
|
||
<p>Scientists at NCATS and other NIH institutes and centers are teaming up to advance a gene therapy treatment for MMA, a rare and potentially life-threatening genetic disorder.</p>
|
||
|
||
</div>
|
||
<div class="usa-card__footer">
|
||
<a href="https://ncats.nih.gov/news-events/news/new-path-for-a-gene-therapy-trial-at-NIH-for-a-rare-metabolic-disease">Read Article</a>
|
||
</div>
|
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</div>
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</div>
|
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<div class="col-sm-4 mb-4 views-row"><div class="usa-card__container">
|
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<div class="usa-card__body">
|
||
<h3 class="title">Easing the Burden of Rare Diseases Through Translational Science</h3>
|
||
<p class="m-0"><i>November 12, 2024 - NCATS News</i>
|
||
</p>
|
||
<ul class="list-pipe">
|
||
<li><i>Our Impact on Rare Diseases</i></li>
|
||
</ul>
|
||
|
||
|
||
<p>NCATS Director Joni Rutter discusses how NCATS is addressing scientific and operational roadblocks that slow progress for rare diseases research and treatments.</p>
|
||
|
||
</div>
|
||
<div class="usa-card__footer">
|
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<a href="https://ncats.nih.gov/about/director/november-2024">Read Article</a>
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</div>
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<div class="text-center button-wrap">
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<button class="buttons btn-1 mt-4"><a href="/news-events/news?keyword=%22rare%20diseases%22">See More Rare Diseases Research News</a></button>
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<div class="container"><p class="last-update-container">Last updated on December 13, 2024</p></div>
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