Imagine you or someone you love is diagnosed with a rare disease and then told:
“There is no cure. There are no treatments. And because it’s so rare, no one is even researching one.” Sadly, millions of people hear this.
Rare disease
There are around 7,000 rare diseases affecting 25–30 million Americans. Some are so uncommon that only a few hundred—or even a few dozen—people worldwide are diagnosed. Yet only about 5% of rare diseases have an approved therapy.
For people living with a rare disease, finding hope can be difficult. Many feel abandoned by the health care system. Others fight back, raising awareness and funds to support research. But doing that without experience in fundraising or drug development presents steep challenges.
Ultragenyx and rare entrepreneur bootcamp
That’s where Ultragenyx comes in. The company has a clear commitment:
“We aim to develop safe and effective treatments for many serious rare diseases as fast as we can, and we are committed to helping the whole rare disease community move forward by sharing our science and expertise.”
Ultragenyx lives that mission through its Rare Entrepreneur Bootcamp, a three‑day crash course for patient and family organizations working to fund potential treatments. Each year, the program selects a dozen or so groups and teaches them the essentials of rare‑disease drug development.
A panel discussion at the Rare Entrepreneur Bootcamp
Ultragenyx founder Dr. Emil Kakkis calls these advocates “warriors” because of the battles they will face. “Get used to hearing no,” he told them. “But keep fighting, because that’s the only way you get to ‘yes.’”
Help from experts
Experts coach participants on pitching investors, collaborating with researchers, designing clinical trials, navigating manufacturing needs, and understanding intellectual property.
In a blog about the event, Arjun Natesan, vice president of Translational Research at Ultragenyx, wrote:
“We are in a position to share what we’ve learned from bringing multiple drugs to market. Making the process easier for these organizations aligns with our goal of treating as many rare‑disease patients as possible. Our aim is to empower them with guidance and tools to advance life‑changing treatments.”
For advocates, the bootcamp provides both knowledge and community. Meeting others fighting the same fight reminds them they are not alone—they are part of a larger, often unseen network working to save the lives of their children or loved ones.
CIRM also shares this commitment to rare diseases. We are funding more than two dozen clinical trials—and many earlier‑stage projects—focused on rare conditions.
The problem is for us with rare diseases is that everything takes too long. Even if we offer to take an experimental drug we can’t even do that. We aren’t move and the mice model isn’t comparable. Let we humans try experimenting with the drugs.
Rare diseases usually involve a small number of population size which may pose difficulty for investigators to conduct significant research and clinical trial. Of course, most of rare diseases caused by genetic disorders which can be induced by internal and external factors. The small sample size may hinder the progress of research to investigate molecular biology interaction of defective gene and protein play roles to cause the disease. Clinicians always take chances to diagnose and treat the patients with rare diseases when they develop the symptom in spot. However, most of pharmaceutical companies are at large reluctant to invest in clinical research and the constraint of funding for project become obstacles to delay the development of effective therapy for patients. With the advanced of digital technology, worldwide collaboration of expertise to provide and exchange clinical data become available. This clue is critical to help researchers narrowing the scope of clinical investigation leading to further cut costs and time for developing the new drugs for rare disease.
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