About a decade ago, I lost my lovely, barely teenage niece Sarah to a rare childhood brain cancer. When I first found out, I'd assumed there was surely some treatment that would give her a chance. There wasn't then, and there isn't now. It's still a death sentence.
She's far from alone. Many families face the horrors of rare genetic diseases with no map or plan on how to even mitigate them, never mind cure them. Now, to help them, The Linux Foundation, the nonprofit open-source organization, and the OpenTreatments Foundation, which enables treatments for rare genetic diseases regardless of rarity and geography, announced the RareCamp software project. This project will provide the source code and open governance for the OpenTreatments software platform to enable patients to create gene therapies for rare genetic diseases.
Just because a disease is "rare" doesn't mean it doesn't affect millions. A recent European Journal of Human Genetics study found there are 400 million patients worldwide affected by over 7,000 rare diseases. Most of these diseases attack children, and 95%+ of rare diseases have no approved treatment. To come up with a single new drug treatment for one disease can cost more than $2 billion. In short, it's an ideal arena for bringing the power of open-source software development to reduce programming times and costs.
As Sanath Kumar Ramesh, founder of the OpenTreatments Foundation and creator of RareCamp, said, "If it's not yet commercially viable to create treatments for rare diseases, we will take this work into our own hands with open source software and community collaboration is the way we can do it."
The goal, Ramesh said, is to "decentralize drug development and empowers patients, families, and other motivated individuals to create treatments for diseases they care about. We will enable the handoff of these therapies to commercial, governmental, and philanthropic entities to ensure patients around the world get access to the therapies for the years to come."
Like many attempts to battle these diseases, Ramesh came to the battlefield because of a personal connection. His son, Raghav, was found soon after his birth to have an ultra-rare genetic condition caused by a mutation in a gene called GPX. All the others who had it have died. There is no treatment. It was expected he'd be wheelchair-bound, non-verbal, and die young. Ramesh, whose day job is as an Amazon software engineering manager, didn't accept this. He turned his open-source and developer skills toward building systems that might not only help his boy but all the many other parents who face rare untreatable diseases.
"OpenTreatments and RareCamp really demonstrate how technology and collaboration can have an impact on human life," said Brett Andrews, RareCamp contributor and Vendia software engineer. "Sanath's vision is fueled with love for his son, technical savvy, and the desire to share what he's learning with others who can benefit. Contributing to this project was an easy decision."
Mike Dolan, executive vice president and GM of projects at the Linux Foundation, added: "OpenTreatments Foundation and RareCamp really represent exactly why open source and collaboration are so powerful -- because they allow all of us to do more together than any one of us. We're honored to be able to support this community and are both confident and inspired about its impact on human lives."
The project is supported by individual contributors, as well as collaborations from companies that include Baylor College of Medicine, Castle IRB, Charles River, Columbus Children's Foundation, GlobalGenes, Odylia Therapeutics, RARE-X, and Turing.com.
The RareCamp open-source project will provide open governance for the software and scientific community to collaborate and create the software tools to aid in the creation of treatments for rare diseases. The community includes software engineers, UX designers, content writers, and scientists. Together, they'll create the software, which will power the OpenTreatments platform.
With hard work and time, RareCamp, along with other recent developments in speeding up medical treatments for new diseases, such as mRNA editing, which is being used in the Pfizer and Moderna COVID-19 vaccines, may save millions of lives. With luck and God's grace, perhaps even young Raghav's life.