Rare genetic diseases are challenging for patients and their families—made all the more overwhelming because symptoms tend to appear soon after birth.
To date, there haven’t been many reliable treatment options for these babies. The few that do exist involve invasive and risky procedures that don’t often have a high rate of success.
But there is a new source of hope for many of these families: the Center for Pediatric CRISPR Cures at the University of California San Francisco. The center—plans for which were announced July 8—is a collaboration between Jennifer Doudna, director of the Innovative Genomics Institute at the University of California, Berkeley who also earned the Nobel Prize for her work in co-discovering the gene-editing technique CRISPR, and Dr. Priscilla Chan, co-CEO and co-founder of the Chan Zuckerberg Initiative.
Supported by $20 million from the Chan Zuckerberg Initiative, the center focuses on treating rare genetic diseases in children, starting with a group of eight kids who will enroll in a clinical trial to access a CRISPR therapy designed specifically for them. Doctors and researchers, including Chan and Doudna, believe that CRISPR can be used to change and correct a range of genetic mutations and scaled up to help more patients. And the medical teams plan to start enrolling patients immediately.
“We want to ensure that CRISPR-based therapies become widely available, especially for rare diseases that likely won’t be the target for pharmaceutical companies,” Doudna tells TIME.
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The partnership was inspired by the recent success in treating KJ Muldoon, the first baby to receive a customized CRISPR treatment. KJ was born at the Children’s Hospital of Philadelphia with a rare genetic disease that prevents him from breaking down proteins properly. The therapy, called base-editing, replaced a faulty letter in KJ’s DNA with the correct one that now lets him eat some protein.
KJ’s treatment represents the next phase of CRISPR-based therapies. While CRISPR treatments have been approved by the FDA to treat sickle cell disease and certain types of beta thalassemia, those therapies involve removing cells from patients, editing them with CRISPR to correct the genetic defect, and then infusing those cells back to the patients. In KJ’s case, the CRISPR editing occurred in his own body, via three injections of a therapy developed just for him. That’s the same model that the new center will use.
“With that story, there was a lot of momentum within our teams about whether we could do that again, and how we could learn from this to create a pipeline to reduce cost and make this therapy much more widely available,” Doudna says.
Doudna thought of Chan, whose initiative has the mission of curing, preventing, or treating all diseases by the end of the century. It was an ideal match, since Chan had trained as a pediatrician at the University of California San Francisco and spent eight years treating children with rare genetic diseases after finishing medical school.
“When Jennifer called me, I thought, ‘This is perfect,’” Chan tells TIME. She recalls encountering families whose babies were affected by diseases so rare that there was often little, if any, information about them. “I have seared in my mind the image of a parent handing me a PDF that they carried around to explain to each resident that this is what we have, and this is all that we know about it. I carry that around daily.”
The experience inspired her to create the Rare As One program at the Chan Zuckerberg Initiative, a network of patients, researchers, and scientists from different disciplines that highlights the need for basic research needed to better understand these conditions in order to develop more effective treatments for them.
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CRISPR, with its ability to target specific genetic mutations, holds the most promise for changing the course of such diseases. But time is of the essence. In KJ’s case, the entire process of identifying his mutation, developing the treatment, testing it, and receiving FDA clearance took nine months. KJ was just six months old when he received his first CRISPR treatment. Acting that quickly is critical for conditions like these, since once cells or organs are damaged by disease-causing mutations, they can’t always be rescued. The idea is to intervene with a CRISPR therapy to minimize the effects that the mutations could have.
Currently, about 6,000 rare diseases affect 300 million people worldwide, and 72% of them are linked to genetic aberrations. A similar proportion primarily affect children. The new center will focus on identifying disease-causing mutations that can easily be targeted—such as in the liver, as in KJ’s case. “Jennifer and her team, and the team at UCSF, will be very careful in choosing mutations that are amenable to this treatment,” says Chan. “Not all mutations will work well with this version of CRISPR…so there will be a delicate balance in choosing patients who stand to benefit the most in this situation.”
Patients will join a clinical trial to receive the treatment, and the research team will study them to learn from their experiences and continue to improve the treatment and the process.
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In the first cases that the center will try to treat, the FDA will consider each treatment on its own and decide whether to approve the customized therapy for that particular patient. But, says Doudna, “as we continue to get more information on the safety and potential risks of CRISPR for different indications, what is emerging is the potential to designate CRISPR as a platform technology.” That means that if regulators approve the framework of the CRISPR gene-editing process, doctors would not need to conduct animal tests for each new CRISPR therapy designed for a patient. The only thing that would change would be the guide RNA, Doudna says, which carries the genetic instructions for finding the specific mutation that needs to be addressed. “Even there, most of the guide RNA stays the same, and it’s just the piece at the end providing the molecular zip code that changes.”
Key to making that happen will be advances in other scientific areas, including using AI to predict how changing specific genes will affect a cell’s function and what potential health outcomes a CRISPR-based treatment might have. That work is ongoing separately at places like Chan Zuckerberg Initiative and elsewhere, says Chan.
Eventually, says Doudna, “we hope as the process moves forward, it will be possible to both predict clinical outcomes of CRISPR therapies accurately and ensure that by changing just a little part of the guide RNA, everything else will remain the same, so you don’t have to do full-blown animal testing for every single iteration of CRISPR. If that becomes possible, then it will make CRISPR a lot cheaper and a lot faster to test these kinds of therapies.” That would make it available for many more patients as well.
