Gene Therapy Technology and Application
📌 AGTC is focused on developing long-lasting therapies for severe diseases using gene therapy technology, with an initial focus on ophthalmology.
🧬 Genetic defects, caused by mutated genes producing abnormal proteins, can be addressed by delivering a functional copy of the gene into the patient's cells to produce a normal protein.
🦠 Gene therapy utilizes engineered viruses, specifically Adeno-Associated Virus (AAV) vectors, as these viruses elicit a weak immune response and have never been shown to cause disease in humans.
🔬 The AAV vector has its native genes removed and replaced with the functional gene flanked by signals called inverted terminal repeats for packaging inside the viral protein shell.

Mechanism of AAV Gene Delivery
💉 AAV vectors are delivered via routine ophthalmic methods like intravitreal or subretinal injection.
🧠 Once administered, the vectors enter cells and deliver the functional gene directly into the nucleus, where it can support the production of the normal protein, correcting the underlying cause.
⏱️ The functional gene delivered by the AAV vector is expected to remain stable for many years, suggesting the potential for long-lasting clinical benefits after a single administration.

Focus on Achromatopsia
👁️ AGTC is targeting Achromatopsia, a rare inherited retinal disease resulting in markedly reduced visual acuity, extreme light sensitivity (day blindness), and complete loss of color discrimination.
💡 In healthy eyes, cone photoreceptors convert light into electrical signals; in Achromatopsia, these receptors fail, commonly due to mutations in the CNGB3 or CNGA3 genes.
✅ Gene therapy for this condition involves designing an AAV vector containing a normal CNGB3 or CNGA3 gene to restore cone photoreceptor function.

Key Points & Insights
➡️ Gene therapy aims to correct the underlying genetic defect causing disease through the sustained production of normal proteins following a one-time vector administration.
🏆 AGTC possesses significant expertise in intellectual property, design, formulation, manufacture, and physical delivery of gene therapy products.
🔬 The stability of the delivered functional gene suggests that these therapies offer the potential for long-lasting therapeutic benefits in inherited retinal diseases.

📸 Video summarized with SummaryTube.com on Nov 19, 2025, 03:05 UTC