Gene Therapy Explained

Summary

A GTC is pioneering the use of gene therapy to develop long-lasting treatments for severe diseases, with an initial focus on ophthalmology. Their technology uses engineered AAV viral vectors to deliver functional genes into retinal cells, correcting genetic defects and restoring vision. One such application targets Achromatopsia, a rare inherited retinal disease caused by mutations in genes like CNGb3 and CNGa3, which impair light processing in cone photoreceptors. This gene therapy offers the potential for long-term benefits with a single administration, positioning GTC at the forefront of groundbreaking treatments for retinal diseases.

Takeaways

• 😀 Gene therapy uses advanced technology to create long-lasting treatments for severe diseases, particularly in ophthalmology.
• 😀 Over 200 genetic defects are linked to vision problems, and gene therapy targets these to restore visual function.
• 😀 Genes are segments of DNA that instruct cells to produce proteins essential for bodily functions, and mutations in these genes cause diseases.
• 😀 Gene therapy involves delivering a functional copy of a gene into a patient's cells to produce the normal protein and potentially correct the disease's underlying cause.
• 😀 AAV (Adeno-Associated Virus) is a commonly used viral vector for delivering gene therapy, particularly for retinal diseases, due to its low immune response and safety profile.
• 😀 In gene therapy, AAV vectors carry a functional gene and a promoter that drives protein production, which is delivered directly into the patient's retina.
• 😀 Once inside the retinal cells, the delivered gene enables the production of the correct protein, potentially reversing the effects of genetic diseases.
• 😀 Gene therapy offers long-lasting therapeutic benefits, especially for rare inherited retinal diseases that currently have no treatments.
• 😀 One example of a condition treated with gene therapy is achromatopsia, a retinal disease that causes extreme light sensitivity and color blindness.
• 😀 Gene therapy for achromatopsia involves restoring the function of cone photoreceptors in the retina by delivering the normal copies of the genes CNGb3 or CNGa3.
• 😀 AAV vectors used for gene therapy are thought to remain stable in cells for many years, suggesting the potential for long-term clinical benefits with a single treatment.

Q & A

What is the focus of GTC's gene therapy technology?

GTC is focused on developing long-lasting therapies using gene therapy technology to treat people with severe diseases, with an initial focus on ophthalmology.

How do genetic defects in the eye affect vision?

Genetic defects in the eye can cause vision loss or blindness by disrupting the function of photoreceptor cells in the retina, which are responsible for converting light into electrical signals for visual processing.

What is the role of genes in the body?

Genes are segments of DNA that provide instructions for cells to produce proteins, which perform a wide variety of essential functions in the body.

What causes diseases in individuals with genetic defects?

Diseases arise when mutated genes provide incorrect instructions, leading to the production of abnormal proteins or a complete lack of protein, which can disrupt normal cell function.

How does gene therapy work to treat diseases caused by genetic defects?

Gene therapy works by delivering a functional copy of a gene into a patient’s cells, allowing the cells to produce a normal protein that can correct the underlying cause of the disease.

What is the role of AAV vectors in gene therapy?

AAV (adeno-associated virus) vectors are engineered viruses used to deliver genes into cells, specifically suited for treating retinal diseases due to their small size, weak immune response, and lack of disease-causing ability in humans.

How is an AAV vector modified for gene therapy?

In gene therapy, the two native AAV genes are removed and replaced with a functional gene and a promoter that drives the production of the desired protein. The DNA is flanked by inverted terminal repeats to ensure proper packaging inside the AAV protein shell.

What delivery methods are used for AAV vectors in ophthalmology?

AAV vectors are delivered to retinal cells through ophthalmic delivery methods such as intravitreal or subretinal injection.

What disease is being targeted by GTC’s gene therapy in ophthalmology?

GTC is targeting inherited retinal diseases, such as achromatopsia, which causes severe visual impairments like day blindness and loss of color discrimination.

What causes achromatopsia and how can gene therapy help?

Achromatopsia is caused by mutations in the CNGB3 or CNGA3 genes, which affect the function of cone photoreceptors. Gene therapy provides a functional copy of the affected gene, restoring cone function and improving vision.

How long can the effects of gene therapy last after treatment?

The functional gene delivered by the AAV vector is expected to remain stable for many years, suggesting that gene therapy can provide long-lasting clinical benefits after a single administration.

What expertise does GTC have in gene therapy?

GTC has significant expertise in the design of gene therapy products, including formulation, manufacturing, and the physical delivery of gene therapy treatments.