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Editing Bloodlines - CRISPR's Role in Treating Blood Disorders

In a historic move, the UK Medicines and Healthcare products Regulatory Agency (MHRA - which regulates medicines, medical devices and blood components for transfusion in the UK) has recently given the nod to Casgevy, a pioneering CRISPR gene-editing medicine designed to tackle two genetic blood disorders: Sickle Cell Disease (SCD) and transfusion-dependent Beta-Thalassemia !



Introduction:

Think of our bodies as intricate machines, and our blood-making system as some kind of well-organized workshop. But sometimes, tiny mistakes in the gene instructions can cause

issues such as Sickle Cell Disease (SCD) or beta thalassemia, where blood cells don't quite play by the rules and cause mutations. In SCD for example, a single change to the 6th codon for the beta chain of hemoglobin causes a change in the amino acid and alters the structure of the red blood cells (going from a round to sickle shape). Traditional treatments, such as bone marrow transplants, are like using a big hammer for a small job. Hence, enter CRISPR—a precise tool that promises to fix those tiny mistakes, offering a targeted approach to treatment.


Why Start with Blood Disorders?

So, why study the applications of genetic engineering on blood disorders first? Our bone marrow, the blood-making factory, is like a workshop with established ways to tinker with cells. It's a bit like fixing a car engine—take it out, work on it in a safe place, and put it back in. This made blood disorders a logical first choice for gene editing. Casgevy, the treatment in focus, homes in on the BCL11A gene—a critical part of the blood-making process.


How Does the Treatment Work?

Let's dive into the fascinating world of gene-editing. Casgevy uses CRISPR-Cas9, a microscopic 'robot' that enters our cells, snipping, replacing, or adding bits to our DNA—the recipe book for everything in our bodies. Casgevy targets the BCL11A gene, which usually dampens the production of a special hemoglobin (HbF) after birth. HbF acts like a superhero hemoglobin, preventing blood cells from misbehaving.



Clinical Trial Results:

Now, comes the real-world tests—clinical trials. Casgevy has been tried on 29 individuals with Sickle Cell Disease and 42 with beta thalassemia. After a year, nearly all experienced fewer painful episodes, and the majority of beta thalassemia patients no longer needed blood transfusions. Thus, so far CRISPR is proving to be highly effective!


Additional Insights from Recent Developments:

In a recent article, it was highlighted that Casgevy's approval isn't just a local triumph; it's a global breakthrough. Sickle Cell Disease, often found in individuals of African ancestry, faces challenges, especially in Africa, where many patients live. Questions about the accessibility and affordability of Casgevy have also surfaced, with potential costs reaching millions of dollars. This has sparked discussions about coverage by the UK's National Health Service and U.S. insurance companies, further adding to the complexity of the approval.


Bioethical Considerations:

As we celebrate these advancements, it's crucial to also explore its ethical dimensions. CRISPR's power to edit genes raises questions about the responsible use of such technology. Bioethical considerations include concerns about unintended consequences, the potential for off-target effects, and the long-term impact on the edited cells and future generations. All in all, balancing the promise of revolutionary treatments with ethical responsibilities is essential to foster trust and ensure the well-being of individuals & society.


What's Next and Challenges:

Looking ahead, what does this mean for the future? Beyond helping those with blood disorders, CRISPR has proven its promise for a multitude of genetic issues. However, challenges remain, such as ensuring safety and affordability for widespread accessibility. There are challenges preventing such treatments to be universally accessible due to both pre-existent inequalities and the recentness of this opportunity as regulators worldwide are currently closely watching this development. For example, in the U.S., an FDA advisory panel has already said the benefits of Casgevy outweigh potential risks and FDA approval for sickle cell treatment is expected by December 8th, with European regulators also considering their decision. This opens the door to a new era in genetic medicine, with CRISPR technologies set to redefine how we treat challenging conditions.


Conclusion:

Casgevy's approval represents more than just a medical milestone—it's a shift in how we approach and treat genetic blood disorders. As we eagerly await global regulatory decisions, the transformative potential of CRISPR-Cas9 therapy shines as a beam of hope. The journey ahead involves overcoming hurdles and making sure everyone around the world has access to such groundbreaking treatments in the decade to come.



 

Update:

As of today, December 8th, the FDA has officially approved the first two gene therapies to treat patients with Sickle Cell Disease -- Casgevy and Lyfgenia. As established above, Casgevy is the CRISPR-based treatment while Lyfgenia uses an older gene therapy approach. However, this eagerly anticipated groundbreaking treatment has been priced at $2.2 million per person -- clearly, there is still more work to be done in order to minimize the cost of such treatments.

 

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