As gene editing increasingly moves from the research laboratory to clinical practice, where it is radically enhancing lives, we take stock of its promise for people with Marfan syndrome. One of the most significant advances in the field has been the clinical use of gene editing for single-gene disorders, and Marfan is one of them.
Gene Editing and New Therapies: What It Means for People with Marfan Syndrome
by Dr José Aragon-Martin
Medical science is advancing rapidly, and many patients hear exciting headlines about gene editing and “living drugs” in the news. You may have seen stories about new therapies for leukaemia and wondered if they could help Marfan syndrome. Here’s what you need to know in simple terms.
1. CAR-T Therapy: A Revolution for Blood Cancers
CAR-T therapy is a new kind of treatment that has made headlines for curing certain blood cancers like leukaemia and lymphoma.
• Scientists take immune cells (called T cells) from a patient or a donor.
• They genetically engineer these cells to hunt down cancer cells.
• The modified cells are put back into the patient’s body, where they attack the cancer.
Some of these therapies, like the BE-CAR7 therapy, even use gene editing (base editing) to make the T cells safer and more effective.
Important for Marfan patients:
• CAR-T therapy does not fix genetic conditions like Marfan syndrome.
• It is designed specifically to target cancer cells, not structural proteins or connective tissues.
2. Prime Editing: Fixing the Genetic Code
Prime editing is a newer technology that works like a “search-and-replace” tool for DNA.
• Scientists can use it to correct specific genetic mutations.
• Unlike older gene-editing tools, prime editing is very precise and causes fewer unwanted changes.
For Marfan syndrome, which is caused by changes in the FBN1 gene, prime editing could theoretically fix the faulty gene at its source.
Challenges today:
• Marfan syndrome affects many parts of the body (heart, aorta, eyes, skeleton). Editing every affected tissue is extremely difficult.
• Delivery of prime editing safely to the right cells is still experimental.
• Currently, prime editing is not available as a treatment for Marfan syndrome — it’s being studied in laboratories.
3. What This Means for You
• CAR-T therapy: Exciting and life-saving for some cancers, not suitable for Marfan syndrome.
• Prime editing: Holds promise as a potential future therapy for genetic conditions like Marfan syndrome, but it is still in early research.
• Researchers are learning more every year, and gene-editing technologies may eventually offer new ways to treat or even prevent Marfan syndrome at its genetic root.
| Gene Editing Tool | How It Works (Simple Explanation) | What It Can Do | Limitations / Notes |
| CRISPR-Cas9 | A molecular “scissors” that can cut DNA at a specific spot. | Can remove, insert, or change a gene. Used in research and some experimental therapies | Can sometimes cut the wrong spot (“off-target” effects). Delivery to all affected cells is challenging |
| Base Editing | A “letter-by-letter” editor that changes a single DNA base (A, T, C, or G) without cutting the DNA | Can fix small point mutations that cause disease. | Only works for certain types of mutations. Still experimental in humans. |
| Prime Editing | A “search-and-replace” tool that can rewrite small sections of DNA very precisely | Can correct more types of mutations than base editing, including insertions or deletions. | Delivery to the right tissues is still experimental. Not yet used as a treatment for genetic diseases like Marfan. |
| Zinc Finger Nucleases (ZFNs) | Custom-made proteins that cut DNA at specific sites. | Can remove or fix genes in research settings. | Complex to design and less flexible than CRISPR. |
| TALENs | Similar to ZFNs but easier to program to target specific DNA sequences. | Can edit genes in cells for research and experimental therapies. |
Takeaway for Patients:
Gene-editing tools are like precision tools for DNA. Some act like scissors (CRISPR-Cas9), others like a pencil that can correct a single letter (base editing) or rewrite a small section (prime editing). Right now, these tools are mostly in research and experimental stages. For Marfan syndrome, they are not yet available as treatments, but we are studying how they might fix the genetic cause in the future.
Bottom Line
If you have Marfan syndrome, the current recommended management remains:
• Regular cardiac monitoring (heart and aorta).
• Medications to reduce stress on the aorta.
• Surgical interventions when needed.
• Lifestyle adjustments and ongoing care with a Marfan specialist.
Gene editing is exciting, but for now, it is not a treatment option, though it may become a reality in the future.
