Rare Disease Day at NIH, Set for March 1, Growing Year by Year

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by Mary Chapman |

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Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a presentation by a Nobel laureate recently recognized for her work on a gene editing tool.

The free, virtual event runs from 10:30 a.m. to 5:30 p.m. EST, and is held in observance of Rare Disease Day, which works to raise awareness of the roughly known 7,000 rare diseases, and the hundreds of millions of people believed to be living with them. Visit this site to register in advance.

A disease is defined as rare in the United States when it affects fewer than 200,000 residents at any given time.

In addition to promoting disease awareness, the NIH event seeks to broaden knowledge of collaborations underway to address scientific challenges and to advance new treatments. Other goals include demonstrating the federal agency’s commitment to using research to help people with rare diseases, and initiating a dialogue among scientists, patients, patient advocates, and policymakers.

The NIH also wants to put faces on rare diseases, sharing stories from patients and their families, who will also have opportunities to “meet” scientists and ask them questions.

The annual event typically also attracts patient advocates, healthcare providers, researchers, trainees, students, industry representatives, and government employees. However, organizers underscore that the event is open to the general public as well, and all are encouraged to attend.

“It’s a day for science, certainly for the rare disease community, but there are some things here that would interest anyone,” Anne Pariser, MD, director of the National Center for Advancing Translational Sciences (NCATS) Office of Rare Diseases Research at the NIH, told Bionews, the publisher of this website, in a phone interview.

“Some of it’s about how research is done in general. There are principles that can translate to any disease,” she added. “It’s a day of celebration and learning and is accessible to anyone. We’re encouraging everyone to join.”

The agenda opens with an NIH overview and features a rare disease story by Jacob Thompson, a rare disease patient, advocate, artist, author, and inspirational speaker. It also includes a panel discussion about collaborations between industry and patient advocacy programs.

Another session looks at the COVID-19 pandemic and how it affected care and research. Patients, patient organizations, and researchers will talk about how the rare diseases community has navigated challenges posed by the outbreak.

Another panel discussion will focus on using health literacy to elevate rare diseases communities and research efforts.

“Rare diseases patients, families, and advocates are well aware of how difficult it can be to find, understand, and use health information to inform decisions and actions for themselves and others. This is a concept known as health literacy,” the agenda states.

“Often, the burden for gaining access and understanding health information is placed on individual patients and families. Improved health literacy in a rare disease community can be an influential factor in promoting access to appropriate medical care, ensuring adequate patient quality of life and laying the groundwork for successful clinical trials.”

In a session called “From Kitchen Tables to Changing Paradigms — Advocacy as a Driving Force in Advancing Progress in Rare Diseases Research,” panelists will discuss their experiences and lessons learned in establishing advocacy foundations.

“Advocacy is playing an increasingly important role in accelerating progress in understanding and treating rare diseases,” the agenda states. “Many rare disease advocacy organizations got their start with one or two patients or caregivers who had a goal of finding treatments, and have grown their efforts into organizations that are changing the rate at which rare diseases research is progressing.”

Panel participants include physicians, patients, industry representatives, scientists, advocates, and others.

Elsewhere on the agenda — which also includes virtual exhibits and scientific posters, an art exhibition, and videos — are presentations about a new course in rare diseases for undergraduate freshmen, and a partnership that aims to better educate healthcare providers about rare diseases.

A presentation called “CRISPR Genome Editing — Rewriting the Future of Health” features Jennifer A. Doudna, PhD, co-winner of the 2020 Nobel prize in chemistry for work that led to the CRISPR/Cas9 gene editing tool. Doudna, a University of California, Berkeley, biochemistry and molecular biology professor, working with Emmanuelle Charpentier  of France, developed CRISPR/Cas9, a genetic engineering approach that might treat some rare diseases by correcting their underlying mutations.

Another presentation, “Hope in Gene Therapy,” will delve further into advancements in this field.

Finally, the event will include some preliminary results of a research survey that looked into how COVID-19 affected the rare diseases community. The online survey was opened last year by the NIH-supported Rare Diseases Clinical Research Network. Results are expected to shed light on the needs of people with rare diseases during the pandemic, and inform future research efforts.

All presentations are TED-style talks, meaning they are conversational and led by experts or people highly knowledgeable about a topic, and deeply committed to explaining it.

As part of the U.S. Department of Health and Human Services, the NIH is the nation’s medical research agency. It began marking Rare Disease Day in 2009, the year the U.S. joined global Rare Disease Day efforts coordinated by Eurordis, an alliance of rare disease patient organizations across Europe.

“We started out with the intention of trying to tell the community about rare disease research, and it’s just kept growing every year,” said Pariser, who arrived at the NIH four years ago after 16 years at the U.S. Food and Drug Administration. “So we’ve been trying new things.

“Last year we started offering exhibit tables for patient groups. Part of the problem with having a rare disease is that people feel very much alone. So, it’s good when you start meeting people,” Pariser added.

The event now takes about six months of work to plan. Pariser’s NIH office organizes it with the help of a diverse planning committee that, this year, includes representatives from NCATS, the NIH Clinical Center, the National Cancer Institute, the National Human Genome Research Institute, the National Organization for Rare Disorders, the Rare Diseases Clinical Research Network’s Coalition of Patient Advocacy Groups, the FDA, The Children’s Inn at NIH, and the National Heart, Lung, and Blood Institute.

“The committee brainstorms around events and topics,” Pariser said. “There could be something going on, and it kind of bubbles to the top.”

In the end, she said, the NIH event is but one of scores of efforts on tap worldwide to call attention to rare diseases and the needs of the community.

“If you count it all together, it’s just huge,” Pariser said of Rare Disease Day events. “One day a year we try to celebrate and recognize people with rare diseases.

“The name ‘rare disease’ sounds like rare diseases are rare, but there are 7,000 of them. With our event, we want to present breakthroughs in research and things our community wants to hear about.”