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A Rare Public Health Challenge

Posted on by Joni Rutter, Ph.D., National Center for Advancing Translational Sciences

child's drawing of houses labeled Scleroderma, Sjogren's, CRMO, Vasculitis, Autoimmune Encephalitis, Cystic Fibrosis
Caption: More than 10,000 rare diseases affect nearly 400 million people across the globe. Credit: Christina Loccke, Lindsey Bergstrom and Sarah Theos

Most public health challenges may seem obvious. The COVID-19 pandemic, for example, swept the globe and in some way touched the lives of everyone. But not all public health challenges are as readily apparent.

Rare diseases are a case in point. While individually each disease is rare, collectively rare diseases are common: More than 10,000 rare diseases affect nearly 400 million people worldwide. In the United States, the prevalence of rare diseases (over 30 million people) rivals or exceeds that of common diseases such as diabetes (37.3 million people), Alzheimer’s disease (6.5 million people), and heart failure (6.2 million people).

Shouldering the Burden of Rare Diseases

As with common diseases, the personal and economic burdens of rare diseases are immense. People who live with rare diseases often struggle for years before they receive an accurate diagnosis, with some remaining undiagnosed for a decade or longer. The diagnostic odyssey includes countless doctor visits, unnecessary tests and procedures, and wrong diagnoses. For people in rural and low-income communities, lack of access to care is an additional barrier to an accurate diagnosis. And a diagnosis often doesn’t lead to better health—only about 5 percent of rare diseases have U.S. Food and Drug Administration–approved treatments.

Collectively, the personal burdens of those with rare diseases impose a significant economic cost on the nation. When quantifying the health care expenses for people with rare diseases, we found that they have three to five times greater costs than those without rare diseases [1]. In the United States, the total direct medical costs for those with rare diseases is approximately $400 billion annually, a figure validated independently by the EveryLife Foundation for Rare Diseases. The EveryLife study also included indirect and non-medical costs, resulting in a higher total economic burden of nearly $1 trillion annually [2].

What’s even starker is that the true scope and impact of rare diseases actually may be greater because rare diseases aren’t easily visible in our health care system. Many of the diseases are too rare to have a code that identifies them in the electronic health record (EHR).

Speeding Up the Search for Solutions

Each and every day, NIH’s National Center for Advancing Translational Sciences (NCATS) works with patients, advocates, clinicians, and researchers to meet the public health challenge of rare diseases. Driving those conversations are three overarching goals to help people living with rare diseases get the high-quality care they need, faster:

1. Shorten the duration of the diagnostic odyssey by more than half. The diagnostic odyssey for someone with a rare disease takes on average seven years, and there are several ways we can speed the journey. For example, we are designing computational tools to detect rare genetic disorders from EHR data. This work is part of a broader research effort focused on using genetic analysis and machine learning to make it easier for health care providers to diagnose people with rare diseases correctly. Also, connecting patients more quickly with each other and the research community can hasten the search for answers. Check out the resources below to learn about rare diseases, find patient support organizations, and get involved in research efforts.

2. Develop treatments for more than one rare disease at a time. A key strategy is leveraging what rare diseases have in common. Some of our efforts build upon the fact that 80–85 percent of rare diseases are genetic. We can use this knowledge to develop genetic and molecular interventions for groups of rare diseases. Two programs—the Platform Vector Gene Therapy pilot project and the Bespoke Gene Therapy Consortium, which is part of the public-private Accelerating Medicines Partnership®—are streamlining the gene therapy development process. Their ultimate goal is to make gene therapies more accessible to many people with rare diseases. We also have joined in to advance the clinical application of genome editing for rare genetic diseases.

The NCATS-led Rare Diseases Clinical Research Network, which is supported across NIH, brings scientists together with rare disease organizations and patient advocacy groups to better understand common characteristics, which also might speed clinical research. With this in mind, we are adapting a clinical trial strategy used in cancer research to test a single therapy on multiple rare diseases.

3. Make it easier and more efficient for scientists to discover and develop treatments for rare diseases. NCATS develops ways for new treatments to reach people more quickly. Repurposing drugs, for example, is revealing already-approved drugs that may work for rare diseases. Programs such as Therapeutics for Rare and Neglected Diseases and Bridging Interventional Development Gaps move basic research discoveries in the lab closer to becoming new drugs. Ambitious initiatives, such as the Biomedical Data Translator, unite data from biomedical research, clinical trials, and EHRs to find treatments for rare diseases faster.

The COVID-19 pandemic showed us the power of working together to solve public health challenges. Let’s now come together to address the public health challenge of rare diseases. If you want to get involved, please join us at Rare Disease Day at NIH 2023 on February 28. You’ll hear personal stories, learn about the latest research, and discover helpful resources. I hope to see you there!


[1] The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems. Tisdale A, Cutillo CM, Nathan R, Russo P, Laraway B, Haendel M, Nowak D, Hasche C, Chan CH, Griese E, Dawkins H, Shukla O, Pearce DA, Rutter JL, Pariser AR. Orphanet Journal of Rare Diseases. 2021 Oct 22; ;16(1):429.

[2] The national economic burden of rare disease in the United States in 2019. Yang G, Cintina I, Pariser A, Oehrlein E, Sullivan J, Kennedy A. Orphanet Journal of Rare Diseases. 2022 Apr 12;17(1):163.


Rare Disease Day at NIH 2023 (National Center for Advancing Translational Sciences/NIH)

Genetic and Rare Diseases Information Center (NCATS)

Toolkit for Patient-Focused Therapy Development (NCATS)

Rare Diseases Registry Program (NCATS)

Rare Diseases Research and Resources (NCATS)

Note: Dr. Lawrence Tabak, who performs the duties of the NIH Director, has asked the heads of NIH’s Institutes and Centers (ICs) to contribute occasional guest posts to the blog to highlight some of the interesting science that they support and conduct. This is the 23rd in the series of NIH IC guest posts that will run until a new permanent NIH director is in place.


  • rob wijbenga says:

    is ME/CFS being included in these developments? And in what way? Sufferers are waiting already for decades for substantial funding of research bringing science closer to its causes and effects and treatments, but hardly anything is being done, and the little effort that is being done, is being done at an extremely slow pace. In spite of a potentially groundbreaking IOM/NAM report af already 8 years ago….

    Thus longterm sufferers are bound to die and factually we hear about it almost every day since a few months. The skyhigh price of decades neglect and stigma

  • Felicia Gauthier says:

    This is the only intelligent train of thought I have come across since I developed a rare brain disorder 4 years ago , Mal de Debarquement. I feel like I am bobbing in water all the time but it goes away when I ride in a car. The only diagnostic criteria is the bobbing sensation has to last more than 30 days and it has to be relieved by passive motion. There are no test or diagnostic test, no treatments or cures If logic dictated any rule out diagnosis, doctors could only inlude illnesses that are relieved with passive motion. I only discovered 1, therefore, I must have it Not according to the medical field. 4 years later, I still do not have a diagnosis. The cost to myself and my government – I am homeless now. So depressed been hospitalized 4 times for S I. All because of being undiagnosed. Thanks for recognizing how big this problem really is and doing something right to fix it.
    Felicia Gauthier

  • Katelyn e panos says:

    Can patients help? I’m and Atypical Cystic Fibrosis with McArdles zebra donkey cross. I have my whole genome sequenced and I know some of my variants, but also variants I would like more info on. I’ve learned to manage both mostly without drugs, im just on ERT and albuterol with a specific diet and airway clearance exercise.

  • Thirst4Knowledge says:

    Thanks for the email notification to this article providing a glimmer of hope for opening this conversation again! I’m looking forward to NIH Rare Disease Day 2023. Still searching for the golden ticket into the diagnostic odyssey (i.e. evaluating the complex history of chronic illness and connecting the dots)!

    “Shouldering the Burden” is sadly true, but beyond offensive to those who are chronically ill. I’ve lost “friends” over attitudes about COVID, saying things like “the old and sick people just need to stay home”! The true burden feels like an overwhelming societal concern for simply being a decent human.

    Just when I thought the PT job of seeking insurance coverage, including appeals, medical billing errors and finding a good doctor were bad enough, I recently found out two of my Specialists no longer accept ANY insurance (Dermatologist, Periodontist) and insurance coverage was dropped for two of my medications. Taking on submitting insurance claims myself is a whole other ballgame! Curious if anyone else can relate?

    All being said, I appreciate the advocates, clinicians, and researchers who are fighting for the “lost” 30 million Americans in our healthcare system. Read this again.

    Lost Americans or Lost Humanity. Prayers to All!

  • Kelly K says:

    As someone with so many AI’s, I am a walking book of information and knowledge to help shrink the bridge for diagnosis. Dozens of doctors, every diagnostic under the sun at least twice, survived numerous SCAD heart attacks and strokes due to APS. So many issues Mayo Clinic rejected me for being too complicated. I suggest reaching out sooner than later. My body hates me and I’m still searching for a competent doctor.

    • Thirst4Knowlege says:

      RIGHT! And how did the 30 million lost Americans become “too complicated”? Does a “bridge” even exist?

      I like your comment “my body hates me”! My mind and my body do not get along at all! It’s like grieving the loss of yourself while alive (with a tiny glimmer of hope). 🙁 Prayers!

  • Robert Bellizzi says:

    Thank you for this enlightening post. I’m going to make it available to our almost 3500 member in our online support groups which provide help, support and information including a specialists’ list for anyone with a corneal dystrophy.

  • Sherilyn Clemetson says:

    Science and technology have come a far way and still has much further to go, ……I am hopeful that improvement is a void that is yet to be full. Looking at it from that aspect doesn’t make the glimmer of hope looks so dim.

  • drcare247 says:

    It’s refreshing to see the NIH shedding light on lesser-known issues that deserve attention. The way the author explained the complexity of the challenge and the collaborative efforts involved was great. It’s encouraging to know that researchers, healthcare professionals, and communities are coming together to tackle this issue head-on. Looking forward to more updates on this important work! Keep up the great work, NIH!

  • drcare247 says:

    It’s great to see the NIH shedding light on less common health issues that often go unnoticed. The importance of collaboration between researchers, healthcare professionals, and affected communities cannot be emphasized enough. Kudos to the NIH for their efforts in addressing these unique challenges and working towards improving public health for everyone. Keep up the great work! 👍

  • Tom Covey says:

    The World Health Organization has identified Aveolar Echinococcossis in the top 15 of deadly emerging diseases. It is serious in Asia, on the rise in Europe, and has just entered North America via Alaska and the Bering Straight. The first case in Ontario has just been identified in 2022 as it makes its way eastward. It is sufficienly rare, particularly in North America at present, to be neglected by pharmaceutical companies. Is NCATS working on this? Is phosphoglycerate mutase (Jim Inglaise at NCATS) a potential drug target for this parasite?

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