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Related Concept Videos

Gene Therapy00:59

Gene Therapy

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Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be...
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At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category,...
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Angle-closure glaucoma, or closed-angle glaucoma, is an eye condition where the iris bulges out and blocks the iridocorneal angle, resulting in a buildup of aqueous humor and increased intraocular pressure. Immediate medical attention is necessary due to the sudden onset of symptoms. The treatment for angle-closure glaucoma includes short-term and long-term approaches. Short-term treatment involves using eye drops like pilocarpine to lower intraocular pressure by increasing aqueous humor...
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Open Angle Glaucoma: Treatment01:27

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In open-angle glaucoma, the iridocorneal angle remains open, but the trabecular meshwork becomes stiff, slowing down the outflow of aqueous humor. This causes a buildup of aqueous humor in the anterior chamber, leading to a sudden increase in intraocular pressure. The treatment for open-angle glaucoma focuses on reducing the elevated intraocular pressure by either decreasing the secretion of aqueous humor or increasing its outflow.
Drugs such as carbonic anhydrase inhibitors, α2- and...
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Most organisms use photoreceptors to sense and respond to light. Examples of photoreceptors include bacteriorhodopsins and bacteriophytochromes in some bacteria, phytochromes in plants, and rhodopsins in the photoreceptor cells of the vertebral retina. The light-sensitive property of these receptors is because of the bound chromophores, such as bilin in the phytochromes and retinal in the rhodopsins.
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Electroporation-Based Genetic Modification of Primary Human Pigment Epithelial Cells Using the Sleeping Beauty Transposon System
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Gene therapy for achromatopsia.

Stylianos Michalakis1, Christian Schön1, Elvir Becirovic1

  • 1Center for Integrated Protein Science Munich CiPSM and Department of Pharmacy - Center for Drug Research, Ludwig-Maximilians-Universität München, Munich, Germany.

The Journal of Gene Medicine
|January 18, 2017
PubMed
Summary
This summary is machine-generated.

Gene therapy offers a promising future for achromatopsia (ACHM), an inherited eye condition. Research is advancing rapidly, with initial clinical trials underway to restore cone photoreceptor function and improve vision.

Keywords:
adeno-associated virus (AAV)animal modelclinical researchgene therapyneuroscienceviral vector

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Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Achromatopsia (ACHM) is an inherited retinal disorder causing congenital cone photoreceptor dysfunction.
  • Patients experience severe visual impairment, including poor daylight vision, photophobia, nystagmus, and absent color discrimination.
  • Mutations in CNGA3 and CNGB3 genes, crucial for cone function, account for up to 80% of ACHM cases.

Purpose of the Study:

  • To review the current state of gene therapy research for achromatopsia.
  • To provide an outlook on the clinical translation of these gene therapy approaches.
  • To summarize the progress in developing curative treatments for ACHM.

Main Methods:

  • Review of current achromatopsia gene therapy research activities.
  • Analysis of established animal models for understanding disease pathophysiology.
  • Evaluation of adeno-associated virus (AAV) vectors for retinal gene delivery.

Main Results:

  • Significant progress has been made in developing gene supplementation therapies for ACHM.
  • Animal models have enhanced the understanding of ACHM pathophysiology.
  • Adeno-associated virus vectors are effective tools for delivering genes to retinal photoreceptors.

Conclusions:

  • Gene therapy holds significant promise for treating achromatopsia.
  • Early-stage clinical trials are initiating, focusing on safety and efficacy.
  • Advancements in gene therapy are paving the way for potential curative treatments for ACHM.