Developing a new drug can cost a billion dollars and take more than a decade. That makes investing in new treatments in the rare disease space — where patient populations are small, and the chance of earning a return on that investment even smaller — a risky bet for big pharmaceutical companies.
That’s a big reason why 95% of the more than 10,000 rare diseases that exist do not have an FDA-approved treatment.
But for parents of children diagnosed with those diseases, doing nothing is not an option. And that’s fueling a major trend in the rare disease community: medical innovation and breakthroughs that are being driven by the patient groups themselves.
Last October, Rare As One — a project funded by the Chan Zuckerberg Biohub that supports patient-led research in the rare disease space — released a report that showed of the 20 organizations it funded when the program launched in 2019, half of them were involved in clinical trials within five years.
That’s remarkable progress from advocacy groups that are mostly led by the communities they represent – regular parents from varied backgrounds, partnering with researchers and clinicians to develop life saving treatments for their loved ones. But for many of these families, figuring out where to start that process can be incredibly complicated.
Ultragenyx, an established player in rare and ultra-rare drug development, is looking to fill that gap and provide families and patient advocates the tools and resources for discovering a treatment.
Twice a year the company hosts Rare Bootcamp, a multi-day forum that helps families learn about conducting rare disease research and the important steps that go into developing a new drug. It also lets them connect with others going through a similar experience.
Ultragenyx CEO Emil Kakkis speaking to attendees at the company’s Rare Bootcamp event in Boston in April 2026.
The event is free for attendees, and is sponsored by other biotech firms, such as Alexion, BioMarin, GeneDx and BridgeBio, that also send experts to participate in panels.
During its most recent bootcamp in Boston last month, the company held more than 20 sessions covering the full spectrum of drug development, from early science to regulatory approval.
Ultragenyx founder and CEO Emil Kakkis launched the bootcamps nine years ago, inspired by his own difficulties researching new treatments during his early days in the industry.
“There’s no book, there’s no ‘CliffsNotes’ on how to develop a drug,” Kakkis said.
“I struggled and struggled, and I promised myself at that time that if I ever became in the position that I knew how to do it, I was just going to tell everyone else that needed it,” Kakkis said.
Mike and Evelyn Ribadeneyra attended the most recent bootcamp. They are trying to find a treatment for their daughter Abbie, who suffers from hereditary spastic paraplegia type 26, a progressive neurodegenerative disorder that took two decades to diagnose.
While they said they did not initially start their journey expecting to find a cure for their daughter’s condition, in the past year they discovered that a gene therapy existed for a similar disorder called SPG 50.
“We’ve been on a long journey, but our new journey begins at rare disease boot camp,” Mike Ribadeneyra said.
Mike and Evelyn Ribadeneyra with their daughter Abbie (left.) Abbie was diagnosed with hereditary spastic paraplegia type 26, a progressive neurodegenerative disorder.
The Ribadeneyras came to Boston to receive a roadmap for how to convince others to conduct research on behalf of their child, and to develop a proof of concept for the drug.
“I didn’t know what to expect, but it has been overwhelming. The access that we’ve been given to the researchers, specialists, and doctors … I feel like they’re really in our community now,” Evelyn said.
The event also serves as a gathering place for families and advocates navigating similar circumstances. Through networking sessions at the conference and dinners at the end of the day, attendees share tips and compare notes on their rare disease journeys.
“We felt so alone for so many years, and my daughter feels so alone … and to know that there are other people going through the exact same process is really encouraging,” Mike said.
Laura Wilson attended the event to help her daughter Ellia, who was diagnosed with a rare neurodevelopmental disorder called ReNU2.
Wilson spent about nine years without a formal diagnosis for Ellia, as the gene was only identified in April 2025. She recently founded an organization called ReNU2 United to help families affected by the disease. So far, about 60 families in 17 countries have identified that their child has the disorder.
Laura Wilson with her daughter Ellia. Ellia suffers from ReNU2, a rare neurodevelopmental disorder that was first identified in April of 2025.
Wilson attended Ultragenyx’s bootcamp to hear from experts in the room about developing treatments, and to learn best practices from other families that have used their organizations to support research.
“No one in this room has a child with the same disorder that my child has, but we share so much in common,” Wilson said in an interview.
“That experience of being a parent to a child with a rare disorder is so unifying that, you know, you sort of get it right away,” Wilson said.
The bootcamp, which is co-hosted by the EveryLife Foundation — an advocacy group founded by Kakkis in 2009 — has grown through word of mouth. Roughly two dozen attendees attended last month’s event, and since it launched about 235 people from 142 organizations have completed the program.
It’s also inspired other similar events, like the RARE Advocate Development Brain Workshop. That workshop focuses on rare diseases that attack the central nervous system, and is hosted by the Rare Epilepsy Network, Mahzi Therapeutics and the advocacy group Global Genes.
Ultimately though, Kakkis says he’s looking forward to the day that these types of events will no longer be needed.
“My hope some day is that we’ll fix this problem,” Kakkis said. “And we’ll know that it’s fixed, because we won’t see any more parents having to develop their own drugs. They’ll all be done. That’s what I’m hoping for.”
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