The bet of $ 20 million on CRISPR to cure rare childhood illnesses

Rare genetic diseases are difficult for patients and their families – are even more overwhelming because symptoms tend to appear shortly after birth.

To date, there have not been many reliable treatment options for these babies. The few that exist involve invasive and risky procedures that do not often have a high success rate.

But there is a new source of hope for many of these families: the Center for Pediatric Crispr heals at the University of California San Francisco. The Center-Plans for which was announced on July 8-is a collaboration between Jennifer Doudna, director of the innovative genomic institute of the University of California in Berkeley who also won the Nobel Prize for her work in the co-discovery of the Gene-Editing Crispr technique, and Dr Priscilla Chan, the Co-CEO and the co-founder of Chan Zuckerberg Initiative.

Supported by 20 million dollars of Chan Zuckerberg Initiative, the center focuses on the treatment of rare genetic diseases in children, starting with a group of eight children who will register for a clinical trial to access 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 increase to help more patients. And medical teams plan to start registering patients immediately.

“We want to make sure that therapies based on CRISPR become widely available, especially for rare diseases which will probably not be the target for pharmaceutical companies,” Doudna told Time.

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The partnership was inspired by the recent success in the treatment of KJ Muldoon, the first baby to receive personalized CRISPR treatment. KJ was born at the Philadelphia children’s hospital with a rare genetic disease which prevents him from properly decomposing proteins. Therapy, called a basic edition, has replaced a defective letter in KJ’s DNA with the good one that now allows it to eat proteins.

KJ’s treatment represents the next phase of therapies based on CRISPR. Although CRISPR treatments were approved by the FDA to treat sickle cell disease and certain types of thalassemia beta, these therapies involve eliminating patient cells, editing them with Crispr to correct genetic defect, then put these cells back to patients. In the case of KJ, the CRISPR edition occurred in its own body, via three injections of developed therapy just for him. It is the same model as the new center will use.

“With this story, there was a lot of momentum within our teams to find out if we could do this again, and how we could learn from this to create a pipeline to reduce costs and make this therapy much more widely available,” said Doudna.

Doudna thought of Chan, whose initiative has the mission of healing, preventing or treating all diseases by the end of the century. It was an ideal match, because Chan had trained as a pediatrician at the University of California in San Francisco and spent eight years treating children with rare genetic diseases after completing his medical studies.

“When Jennifer called me, I said to myself:” It’s perfect, “says Chan Time. She remembers meeting families whose babies were affected by illnesses so rare that there was often little or no information about them. “I seized in my mind the image of a parent giving me a PDF they transported to explain to each resident that this is what we have, and that’s all we know. I transport it daily. ”

Experience has inspired her to create the rare as a program at the Chan Zuckerberg initiative, a network of patients, researchers and scientists from different disciplines which highlights the need for fundamental research necessary 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, is the most promising to change the course of these diseases. But time is essence. In the case of KJ, the entire process of identifying its transfer, development development, testing it and receiving authorization from the FDA took nine months. KJ was only six months old when he received his first TRISPR treatment. Acting which is quickly essential for conditions like these, because once cells or organs are damaged by pathogenic mutations, they cannot always be saved. The idea is to intervene with Crispr therapy to minimize the effects that mutations may have.

Currently, around 6,000 rare diseases affect 300 million people worldwide and 72% of them are linked to genetic aberrations. A similar proportion mainly affects children. The new center will focus on identifying pathogenic mutations which can easily be targeted, such as in the liver, as in the case of KJ. “Jennifer and her team, and the UCSF team, will be very careful in the choice of changes that lend themselves to this treatment,” explains Chan. “All the mutations will not work well with this version of CRISPR … There will therefore be a delicate balance in the choice of patients who benefit the most in this situation.”

Patients will join a clinical trial to receive treatment, and the research team will study them to learn from their experiences and continue to improve treatment and process.

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In the first cases that the center will try to treat, the FDA will examine each treatment by itself and decide to approve the opportunity to approve personalized therapy for this patient in particular. But, says Doudna, “while we continue to obtain more information on the security and potential risks of CRISPR for various indications, what emerges is the potential to designate Crispr as a platform technology.” This means that if regulators approve the framework of the CRISPR gene editing process, doctors would not need to carry out animal tests for each new CRISPR therapy designed for a patient. The only thing that would change would be the RNA guide, says Doudna, which carries the genetic instructions to find the specific mutation that must be treated. “Even there, most of the RNA guide remains the same, and it’s just the piece at the end to provide the molecular postal code that changes.”