The $20 Million Bet on CRISPR to Cure Rare Childhood Diseases

Rare genetic diseases constitute a challenge for patients and their families – made more overwhelming because symptoms tend to appear shortly after birth.

So far, there have been many reliable treatment options for these children. The existing few include invasive procedures and risks that often do not have high success.

But there is a new source of hope for many of these families: the CRISPR treatment center at the University of California San Francisco. The center-which was announced on July 8-is a cooperation between Jennifer Dodna, director of the Innovative Genome Institute at the University of California, Berkeley, who also won the Nobel Prize for her work in discovering Chan Zuckerber Standive.

With the support of $ 20 million from the Chan Zuckerberg initiative, the center focuses on treating rare genetic diseases in children, starting with a group of eight children who will record a clinical trial to reach CRISPR treatment specifically designed for them. Doctors and researchers, including Chan and our friend, believe that CRISPR can be used to change and correct a group of genetic mutations and expand their scope to help more patients. The medical teams plan to start registering patients immediately.

“We want to ensure that Krisper -based treatments are widely available, especially for rare diseases that are likely not to be the goal for pharmaceutical companies,” says Dodna Time.

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The partnership was inspired by the last success in KJ MULDONON TreatmentThe first child to receive a dedicated CRISPR treatment. KJ was born at the Children’s Hospital in Philadelphia with a rare genetic disease that prevents him from properly destroying proteins. Replaced the treatment, which is called the foundation editing, a flawed speech in KJ DNA with the correct letter that now allows it to eat some protein.

KJ treatment is the next stage of Krisper -based treatments. While CRISPR’s treatments were approved by the Food and Drug Administration to treat them Mengeliocycology and Certain types of beta tranThese treatments include cell removal from patients, editing them with CRISPR to correct the genetic defect, then instill these cells again to patients. In the case of KJ, CRISPR’s editing occurred in his body, through three injections of treatment that was developed for him only. This is the same model that the new center will use.

“With this story, there was a lot of momentum inside our teams about whether we could do this again, and how we can learn from this to create a pipeline to reduce cost and make this treatment available on a larger scale,” says Dodna.

Think of Dodna in Chan, who has its initiatives a task To treat, prevent or treat all diseases by the end of the century. It was an ideal match, as Chan was trained as a pediatrician at the University of California San Francisco and spent eight years treating children with rare genetic diseases after completing the Faculty of Medicine.

“When Jennifer called, I thought,” This is perfect, “says Chan Time. She remembers facing families whose children are affected by rare diseases to the extent that there is often a few information, if any, about them.” In my mind, the image of one of the parents who delivers me the PDF file that they carried to explain to every resident that this is what we have, and that’s all that we know about. I carry it daily. ”

The experience inspired it to create a rare program as a program in the Chan Zuckerberg initiative, a network of patients, researchers and scientists from various specializations that highlight the need for the basic 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, carries the greatest promise to change the course of such diseases. But the time is essence. In the case of KJ, the full process of determining its mutation, the development of treatment, tested, and receiving clearance in the Food and Drug Administration (FDA) took nine months. KJ was only six months old when he received his first Krisper treatment. The behavior of quickly is very important for conditions like this, as cells or organs are invoked due to mutations that cause diseases, which cannot always be saved. The idea is to interfere with Krisper’s treatment to reduce the effects that mutations can cause.

Currently, about 6000 rare diseases It affects 300 million people all over the world, and 72 % of them are linked to genetic deviations. A similar percentage mainly affects children. The new center will focus on identifying pathogens that can be easily targeted-as in the liver, as in the case of KJ. “You will be Jennifer and her team, and the UCSF team, very careful in choosing the remedy,” says Chan. “All mutations will not work well with this version of CRISPR … So there will be an accurate balance in choosing patients who stand more than others in this position.”

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

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In the first cases that the center will try to treat, the FDA (FDA) will consider each treatment on its own and decide whether the treatment designated for this patient will be approved. However, Dodna says, “As we continue to get more information about the safety and potential risks of CRISPR to get different indicators, what is emerging is the ability to set CRISPR as a platform technology.” This means that if the organizers agree on the framework of the CRISPR genes process, doctors will not need animal tests for every new CRISPR treatment for the patient. Dodna says, the only thing that may change is the RNA, which carries genetic instructions to find a specific mutation that must be addressed. “Even there, most of the guide remains the rim as it is, and it is just a piece in the end that provides the funny zip code that changes.”