Developing a new drug can cost $1 billion and take more than 10 years. That makes investing in new treatments in rare disease areas, where the number of patients is small and the chances of getting a return on that investment even lower, a risky bet for big drug companies.
This is a big reason why 95% of the more than 10,000 rare diseases in existence have no FDA-approved treatment.
But for parents of children diagnosed with these illnesses, doing nothing is not an option. And that’s driving a major trend in the rare disease community: medical innovation and breakthroughs driven by patient organizations themselves.
Last October, Rare as One, a project funded by the Chan Zuckerberg Biohub to support patient-led research in rare diseases, released a report showing that of the 20 organizations it funded when the program launched in 2019, half had participated in clinical trials within five years.
This is a remarkable advance for an advocacy group led primarily by the communities they represent: ordinary parents from diverse backgrounds working with researchers and clinicians to develop life-saving treatments for their loved ones. But for many of these families, understanding where to start with that process can be incredibly complicated.
ultragenicsis an established player in the development of orphan and ultra-orphan drugs, and we want to fill that gap and give families and patient advocates the tools and resources to find treatments.
Twice a year, the company hosts Rare Bootcamp, a multi-day forum that helps families learn about important steps in conducting rare disease research and developing new drugs. You can also connect with others who are going through similar experiences.
Ultragenyx CEO Emil Kakkis speaks to attendees at the company’s Rare Bootcamp event in Boston in April 2026.
The event is free to attendees and is sponsored by other biotech companies, including Alexion, BioMarin, GeneDx, and BridgeBio, who also send experts to participate on panels.
At its latest bootcamp, held in Boston last month, the company held more than 20 sessions covering the full spectrum of drug development, from early science to regulatory approval.
Emil Kakkis, founder and CEO of Ultragenyx, started Bootcamp nine years ago, inspired by the struggles he faced researching new treatments when he was new to the industry.
“There are no books or ‘CliffsNotes’ written about how to develop drugs,” Kakkis said.
“I struggled and struggled, and I promised myself then that if I was in a position where I knew how to do it, I was going to tell everyone else who needed it,” Kakkis said.
Mike and Evelyn Rivadeneira attended our latest bootcamp. They are trying to find a cure for their daughter Abby, who suffers from hereditary spastic paraplegia type 26, a progressive neurodegenerative disease that took 20 years to diagnose.
They said they did not initially set out on their journey hoping to find a cure for their daughter’s disease, but last year they discovered that a gene therapy for a similar disease, called SPG 50, existed.
“We have been on a long journey, but our new journey begins with Rare Disease Boot Camp,” said Mike Rivadeneira.
Mike and Evelyn Rivadeneira with their daughter Abby (left) Abby was diagnosed with hereditary spastic paraplegia type 26, a progressive neurodegenerative disease.
The Rivadeniras came to Boston to receive a roadmap on how to persuade others to conduct research on their child’s behalf and how to develop a proof of concept for the drug.
“I didn’t know what was going to happen, but I was really overwhelmed. The access that was given to the researchers, the experts, the doctors… I feel like they really came into our community,” Evelyn said.
The event also serves as a gathering place for families and supporters going through similar situations. Through networking sessions at the conference and dinner at the end of the day, attendees will share tips and compare notes on tackling rare diseases.
“We’ve felt so alone for so many years, and my daughter has felt so alone…and it’s really encouraging to know that there are other people going through the exact same process,” Mike said.
Laura Wilson attended the event to help her daughter Elia, who was diagnosed with a rare neurodevelopmental disorder called ReNU2.
Wilson spent about nine years without an official diagnosis of Elia, as Elia’s gene was only identified in April 2025. She recently founded an organization called ReNU2 United to help families affected by the disease. So far, around 60 families in 17 countries have confirmed that their child has the disorder.
Laura Wilson and her daughter Elia. Elia has ReNU2, a rare neurodevelopmental disorder first identified in April 2025.
Wilson attended the Ultragenics boot camp, hearing from experts in the room about treatment development and learning best practices from other families who are using their tissue to support research.
“There’s no kid in this room with the same disability as my kid, but we have a lot in common,” Wilson said in an interview.
“The experience of being a parent to a child with a rare disability is so unifying that it’s easy to understand,” Wilson said.
The bootcamp, co-sponsored by the Everylife Foundation, an advocacy organization Kakkis founded in 2009, has grown through word of mouth. About 20 participants attended last month’s event, and about 235 people from 142 organizations have completed the program since its inception.
It also inspired other similar events, such as the RARE Advocate Development Brain Workshop. The workshop focuses on rare diseases that attack the central nervous system and is sponsored by Rare Epilepsy Network, Mahzi Therapeutics, and advocacy group Global Genes.
But eventually, Kakkis said he looks forward to the day when these types of events are no longer necessary.
“I hope that one day we can solve this problem,” Kakkis said. “And we will know that this problem is solved, because no more parents will have to develop their own drugs. They will all be done. That’s what I hope.”
For more articles like this, sign up for the CNBC Cures newsletter.
