For Chris Waters, the motivation behind leaving big pharma and biotech to start a nonprofit focused on rare childhood diseases is simple: “What matters most is empowering families and helping them accelerate the research that can deliver the clinical solutions their children urgently need,” she says.
Rare Science
Chris is the founder of Rare Science.
Their mission—Accelerating Cures for RARE Kids—closely mirrors our own at CIRM, so partnering with them felt natural. At least it did to Chris. And one thing to know about her: when she has an idea, step aside, because she will make it happen.
“The biggest gap in drug development is that we aren’t addressing the specific needs of children, especially those with rare diseases. We need to focus on kids. They are our future. If it takes 14 years and $2 billion to get FDA approval for a new drug, how does that help the 35% of the 200 million children worldwide who die before age 5 because of a rare disease? That’s why we created Rare Science. How do we help kids now? How do we help families? How do we make change?”
Banking on CIRM for help
One of the changes she pushed for was adding blood and tissue samples to the CIRM Induced Pluripotent Stem Cell Bank.This program is collecting samples from up to 3,000 Californians, some healthy, others living with conditions such as autism, Alzheimer’s, heart, lung, and liver disease, and blindness. The samples are turned into iPS cells. Those can become any cell type in the body. These cells allow researchers to study how diseases develop and, ultimately, to pursue new therapies.
Chris says many kids with rare diseases can spend years searching for an accurate diagnosis. Even when they finally get one, treatments are often nonexistent. She points to one San Diego teenager, Lilly Grossman, who was first diagnosed with cerebral palsy. It took years to discover the real cause of her symptoms. It was a mutation in the ADCY5 gene that leads to abnormal involuntary movement. At first, Lily’s family thought they were alone. They eventually created a patient‑family organization (ADCY5.org) to support others with the condition.
“Even though we know these individuals carry the gene mutation, we have no idea how it causes the widely varying symptoms we see,” Chris says. “We need research tools to understand the biology of ADCY5 and other rare diseases—it’s not enough to know the mutation. We’ve always wanted to create a stem cell line that could help us answer these biological questions.”
Getting creative
But with little money to spend Chris faced what, for an ordinary person, might have been a series of daunting obstacles. She needed consent forms so that everyone donating tissue. This was especially true for children. They all needed to understand exactly what giving samples involved and how those samples would be used in research. She also needed collection materials. And she need doctors and sites around the world to help families provide samples. All of this required funding, something every nonprofit struggles to secure.
So she got to work. She created a Research Participant’s Bill of Rights. This outlined what every medical research participant is entitled to. She wrote forms explaining to children, teens, and parents what happens when they donate skin or blood samples. These also explained how their medical histories may be used in research. Then she approached medical supply companies and persuaded them to donate the materials to collect and preserve samples.
Even though ADCY5 is extremely rare, Chris has collected samples from 42 individuals across 13 families. These include samples from affected children, their unaffected siblings, and their parents—from the US, Europe, Canada, and Australia.
“With CIRM we can build stem cell lines. We can lower the barrier for researchers who want to use these valuable lines but lack the resources to create them. In researchers’ hands, these lines could accelerate our understanding of the biology, identify therapeutic targets, and even help screen existing drugs so we can find something that helps kids now—not 14 years from now.”
The samples Chris collects will be available to researchers worldwide. She hopes this approach becomes a model for other rare diseases, enabling the creation of stem cell lines that help bridge the gap between discovery and clinical impact.
Rare bears for rare disease
But in everything she does, in the end it always comes down to the patient families. Chris says so many children and families battling a rare disease feel they are alone. So she created with her team, the RARE Bear program to let them know they aren’t alone, that they are part of a worldwide community of support. She says each bear is handmade by the RARE Bear Army which spans 9 countries including 45 states in the US. Each RARE Bear is different, because “they are all one of a kind bears for one of a kind kids. And that’s why we are here, to help rare kids one bear at a time.” The RARE Bear program, also helps with rare disease awareness, patient outreach and rare disease community building which is key for RARE Science Research Programs.
It’s working. Chris recently got this series of photos and notes from the parents of a young girl in England, after they got their bear.
“I wanted to say a huge heartfelt thank you for my daughters Rare bear. It arrived today to Essex, England & as you can see from my pictures Isabella loves her already! We have named her Faith as a reminder to never give up!”
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