Gene Therapy

Gene
Therapy

Gene therapy is a newer approach that focuses on the blood stem cells to reduce—or potentially eliminate—the symptoms of sickle cell disease. Instead of using donor cells, gene therapy works by modifying your own stem cells so they can make healthy, non-sickling hemoglobin.

There are different types of gene therapy being used and studied today, including gene addition and gene editing. Gene editing can take a few forms, such as gene silencing or gene correction. While the science behind each approach is different, the process starts the same way: your stem cells are collected and taken to a lab, where they are carefully modified.

Once the changes are made, the modified stem cells are returned to your body. The goal is to reduce the amount of hemoglobin S your red blood cells produce. When hemoglobin S levels are lowered, red blood cells are less likely to sickle or break down, which can lead to fewer complications and improved symptoms.

For eligible patients, gene therapy represents a transformative option—one that offers the possibility of long-term relief and a new chapter beyond sickle cell disease.

Gene Therapy Approaches

Gene Addition

Gene Silencing

Gene Correction

Patient stem cells are collected and taken to a lab for modification. An extra copy of a hemoglobin A gene (without the variant) is added to the stem cell, which allows your cells to produce hemoglobin A (non-sickling hemoglobin).

The gene that produces the BCL 11A-blocking protein, which inactivates hemoglobin F is silenced. By silencing the gene, the gene that makes hemoglobin F cane be activated, which allows your cells to produce hemoglobin F (non-sickling).

Patient stem cells are collected and taken to a lab for modification.The variant in the gene that causes sickle cell disease is corrected so that it codes for a non-sickling hemoglobin.

Resources

Patient-focused explanations and eligibility information are available here:

National Human Genome Research Institute – digital education materials that reflect the priorities and perspectives of individuals living with sickle cell disease and the gene therapy/ biomedical research communities.
Duke Health – in-depth clinical explanation of gene therapy and how it works
Children’s National Hospital – overview of FDA-approved therapies and who may qualify