CRISPR Gene Therapy Gives Me Hope for a Future Without Hemophilia

On Sunday mornings in my home, I usually watch “CBS Sunday Morning,” hosted by Jane Pauley. Last week, an interview caught my eye.

The segment featured Dr. Jennifer Doudna, who won the Nobel Prize in chemistry in 2020 along with fellow researcher Emmanuelle Charpentier for developing game-changing gene-editing technology.

The Royal Swedish Academy of Sciences detailed the researchers’ work in an article called “Genetic scissors: a tool for rewriting the code of life.” Years ago, the discovery of repeated DNA sequences in bacteria, known as CRISPR (clustered regularly interspaced short palindromic repeats), gave way to what many would call one of the world’s more significant scientific developments.

In 2012, Doudna and Charpentier published their discovery of CRISPR/Cas9 genetic scissors, which can alter DNA. The process can identify a mutated gene, inject proteins to cut the DNA at the spot that contains a defect, and then modify, delete, or correct the gene. This might one day allow us to prevent and eventually wipe out many diseases.

Research using CRISPR/Cas9 technology in animal models appears promising, and it also is being studied in limited human trials. (Some uses of the technology, however, present ongoing ethical issues.)

As I listened to the news about such innovative treatment possibilities, I could not help but think about my sons. Might a day come in my boys’ lives when hemophilia becomes obsolete? Could CRISPR/Cas9 provide an answer that many of us with chronic illness seek?

I fought the urge to jump up and shout, “Hallelujah!” I sat there, unsure how to imagine a world in which a bleeding disorder would not require most of my time.

After I returned home from church, I started to look up the meaning of CRISPR. More importantly, I wanted to know if the revolutionary research had reached the hemophilia community. A quick scan online revealed that at least two prominent research fellows hoped to utilize the new method in clinical trials.

As a postdoctoral fellow at Boston Children’s Hospital from 2017 to 2019, Dr. Satish Nandakumar researched the possible treatment of patients with mild hemophilia mutations by using CRISPR/Cas9 to develop a new gene therapy approach that “involves activation of the endogenous factor VIII or IX genes within hematopoietic stem cells,” according to the National Hemophilia Foundation.

In 2019, Casebia Therapeutics, a joint venture of Bayer and CRISPR Therapeutics, reported new research on a gene-editing approach to managing factor VIII production, a potential therapy for those living with hemophilia A.

Although the research was conducted in mice, Casebia President Jim Burns said, “While acknowledging that early-stage results in animal models do not always translate into successful human treatments, we are extremely encouraged by the results,” as Hemophilia News Today reported in 2019. Hopefully, scientists will be able to replicate positive results in human trials.

Author Walter Isaacson chronicled Doudna’s work on the CRISPR genetic scissors in his book, “The Code Breaker.” In it, he described her incredible discovery, the challenges she faced, and some of the ethical issues raised by genetic modification.

Isaacson and Doudna discussed her scientific discovery and its societal implications in more detail at the 2017 Aspen Ideas Festival. As I watched the one-hour discussion, I was captivated by Doudna’s description of how CRISPR works, while acknowledging the ethical challenges throughout the process.

The idea of gene therapy was a far-off dream when my oldest son came into the world. Now, we stand at the precipice of possibilities that seemed like science fiction only a couple decades ago. We move forward with hope that many illnesses will become a thing of the past one day.

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Note: Hemophilia News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Hemophilia News Today or its parent company, BioNews, and are intended to spark discussion about issues pertaining to hemophilia.