WHAT IS GENE THERAPY?
Gene therapy represents a groundbreaking approach to medicine that targets the root cause of genetic diseases.
Rather than simply managing symptoms, this innovative treatment directly addresses genetic mutations that cause disease.
HOW GENE THERAPY WORKS
Genes act as blueprints for growth, repair, and overall health. Errors in these instructions can disrupt function, leading to disease.
Gene therapy works by fixing or replacing these faulty instructions.
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Gene therapy restores function by delivering, editing, or regulating genes using various strategies:​
GENE EDITING
Using advanced tools like CRISPR to directly repair the faulty section of the DNA
GENE SILENCING
Turning off a harmful gene that causes disease
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GENE ADDITION
Adding a new gene to help the body fight a specific disease
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Delivery and repair methods vary by condition and approach, including viral vectors (AAV, lentiviral, retroviral), gene editing (CRISPR, base editing), and stem cell-based therapies.
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Rarity PBC’s therapies, like RDP-101 for ADA-SCID, use gene addition with lentiviral vectors to modify hematopoietic (blood) stem cells.
How RDP-101 Works for ADA-SCID
Rarity’s RDP-101 treatment uses ex vivo autologous hematopoietic stem cell (HSC) gene therapy, an innovative approach for rare genetic diseases like ADA-SCID. This method modifies the patient’s own stem cells to restore immune function. Here’s how it works:
COLLECTION OF STEM CELLS (HSCs)
The patient’s hematopoietic stem cells (HSCs) are collected from the patient. These cells develop into blood and immune cells.
MODIFYING THE CELLS OUTSIDE THE BODY (ex vivo)
Outside the body, HSCs are modified using a lentiviral vector to safely insert the corrected gene into the cell’s DNA.
ENSURING QUALITY
AND SAFETY
The modified cells undergo rigorous testing to ensure they are safe, stable, and functional before reinfusion.
RE-INFUSION INTO
THE PATIENT
Once approved, the cells are infused back into the patient after a conditioning treatment that prepares the bone marrow.
LONG-TERM
BENEFITS
The corrected HSCs multiply, renewing a healthy immune system, and providing a lasting or curative effect.
PRECISION MEDICINE
Tailored to address the specific genetic cause of a disease.
REDUCED
BURDEN OF CARE
Eliminates or reduces the need for frequent medical treatments, improving quality of life.
TRANSFORMING LIVES
For people with rare or untreatable conditions, gene therapy provides new hope by targeting the root cause of the disease
THE PROMISE OF GENE THERAPY
LONG-TERM SOLUTIONS
Many genetic diseases require lifelong treatment. Gene Therapy addresses the root cause, offering a one-time fix rather than managing symptoms