Rare Disease Day 2025 is Postponed – Why?

Every year near the end of February, Rare Disease Day honors the 30 million people in the US who have 10,000+ rare medical conditions, and those who support them. Events bring the patient, scientific, regulatory, and clinical communities together, to share and discuss novel hypotheses, new data, tentative conclusions, and hands-on information about living with the diseases.

Exciting interactions arise at rare disease conferences, at local, national, and international levels.

According to the National Organization for Rare Disorders from 2023, “February 28 has grown into an essential annual celebration to engage the community, elevate the stories of patients and families, drive donations, and advance critical resources and innovative research for rare diseases. To learn more and find ways to get involved, visit rarediseaseday.us. Every year, February 28 is “A Day to be Heard.”

I’ve attended Rare Disease Day celebrations, and befriended many families while and since writing The Forever Fix: Gene Therapy and the Boy Who Saved It, published in 2012. DNA Science has covered Rare Disease Day for years – links are at the end of this post.

At rare disease meetings, people pack auditoriums to take in data displayed on large screens, or meet in smaller groups, discussing shared challenges and concerns, from fundraising ideas to choosing the optimal viral vectors to deliver a specific gene therapy. And a parent or two may dress as a zebra, the striped mammal that symbolizes a rare disease among the more prevalent horses. Unicorns may be appropriate for some.

I never imagined that a celebration as wonderful as Rare Disease Day would be postponed, except perhaps for a natural disaster like an impending asteroid hit or imminent war. But firing experts and dismantling the infrastructure of key institutions has now touched the human interactions aimed at saving lives, many of them of children. Even this special day is apparently not immune.

I was stunned when I clicked on FDA’s news webpage for Rare Disease Day 2025:

“POSTPONED – FDA-NIH Rare Disease Day
After much consideration, we are postponing FDA-NIH Rare Disease Day 2025 and will reschedule it to occur in the coming months. Rare Disease Day is important to all of us, and we want to make sure we can fully focus on the event to make it the best that it can be. We appreciate your understanding and thank you for your continued work raising awareness, developing cures and treatments, and offering resources that give hope to the millions of people in this country affected by rare diseases.

Here’s the link to the announcement from FDA’s Office of Orphan Products Development.

I do not know the exact reasons for the sudden postponement of Rare Disease Day. Reading between the lines suggests that people at FDA and NIH are scrambling under recent and looming cuts – not necessarily that DoGE has intentionally blocked the annual opportunity for families with rare diseases to meet with scientists, clinicians, regulatory and public health experts. I certainly hope helping the rare disease community is not considered to be “government waste.”

Do officials championing the cuts that led to the “postponement” understand the diseases, the treatments, or how research actually happens? Progress in gene and cell therapies has been slow, yet at the same time, amazing. Children are being treated! Some are living beyond what their genes would otherwise have dictated, revealing previously unseen manifestations that may inform the design of novel treatment approaches, inspiring future clinical trials.

The great irony is that this year, Rare Disease Day, February 27 and 28, would have coincided with the 50th anniversary of the history-making final day of the conference held at Asilomar, California where scientists famously debated the safety of recombinant DNA technology, which introduces DNA into cells from one type of organism into cells of another.

Members of the public learned the science, considered the issues, and asked the experts questions. Debates ensued. The current issue of Trends in Biotechnology has several articles on “50 years after the Asilomar conference,” summarized with links in this news release.

At the time of Asilomar, people were quite concerned. Combining genetic material – which is possible because all organisms have DNA and their cells use the same genetic code – was novel and scary. My mentor in grad school dubbed the technology circa 1975 the “Triple-Headed Purple Monster.”

But recombinant DNA technology eased or made possible the production of diverse drugs. Today drugs derived from the technology are used to treat common conditions like diabetes, life-threatening blood clots, plummeting blood counts after chemo, and boosting immunity, easing breathing, lowering blood pressure, correcting enzyme deficits, and healing skin.

I wonder how many patients stop to think that their insulin is manufactured in bacteria that “read” inserted human genes? Or that human clotting factor VIII that people with hemophilia A take is produced in cultured cells of a Chinese hamster’s ovary or kidney?

Recombinant DNA technology has become mainstream. It is simpler than gene therapy because it manufactures peptides and proteins that are the drugs, in cells growing in a lab.

Gene therapy, in contrast, two decades or so behind recombinant DNA technology, introduces DNA into specific types of cells or into a patient’s body. If all goes well, the patient then produces the needed protein, which can compensate for the mutations that cause the disease. Simple in concept, gene therapy is actually extremely challenging to carry out.

More complicated means more costly – some gene therapies cost millions, although they may be “one-and-done” strategies. A few have been taken out of the pipeline for this reason (see Pulling the Plug on the first gene therapy drug).

CODA
Since writing my gene therapy book, more families with genetic disorders have shared with me their experiences launching clinical trials to help their loved ones and others – often beginning with preclinical research (non-human animals and human cells).

I hate to ponder the ripple effects of cuts to NIH, FDA, and CDC and other vital agencies, from the postponements, delays, and cancellations. Here are some of my posts about families who have shared their efforts to champion gene therapy with me. I hope that all of their efforts aren’t delayed, a victim to politics.

Parent Roundtable Before and After Gene Therapy

Eliza Gets Her Gene Therapy

Hannah Has Her Gene Therapy for GAN: When Science Becomes Medicine

Rare Disease Day 2017: Talia’s Story

Celebrating the Moms of Gene Therapy

Gene Therapy for Myotubular Myopathy: Early Signs of Success

A Tale of Two Clinical Trials: Gene Therapy for a Rare Disease and a Vaccine for-COVID-19

Rare Disease Day 2021: Gene Therapy Ups and Downs Again

Rare Disease Day 2022: Juvenile Huntingtons Disease

Two Newly Approved Gene Therapies Cost Millions

Topical Gene Therapy FDA-Approved for Severe Skin Disease Dystrophic Epidermolysis Bullosa

Recent Gene Therapy Setback for Duchenne Muscular Dystrophy Deja Vu All Over Again