The development of effective therapies for Aniridia is a complex and multifaceted endeavor. As a research services provider, Protheragen is committed to providing comprehensive Aniridia diagnostics and therapeutic development solutions.
Aniridia is a rare genetic ocular disorder characterized by the underdevelopment or absence of the iris, leading to significant visual impairments. The condition is primarily caused by mutations in the PAX6 gene, which plays a crucial role in ocular development. Aniridia is associated with a range of complications, including Aniridia-Associated Keratopathy (AAK), glaucoma, cataracts, and dry eye disease, which collectively contribute to the deterioration of visual function.
Fig.1 Schematic drawing showing the development of aniridia-associated keratopathy (AAK). (Landsend E. C., et al., 2021)The PAX6 gene, located on chromosome 11p13, encodes a transcription factor essential for the development of the eye, brain, and other organs. Mutations in PAX6 result in a spectrum of phenotypic expressions, from mild iris hypoplasia to complete absence of the iris. The genetic heterogeneity of Aniridia contributes to the variability in disease presentation, with over 500 unique heterozygous loss-of-function mutations reported.
Pharmacological Therapies
Pharmacological approaches focus on modulating inflammation, neovascularization, and tear abnormalities. Anti-VEGF compounds, such as Bevacizumab, have shown promise in reducing corneal neovascularization and delaying AAK progression. Additionally, autologous serum eye drops and amniotic membrane-derived eye drops are being explored for their potential to stabilize the ocular surface and reduce inflammation.
Cell and Gene Therapies
Cell therapy, including limbal stem cell transplantation and the use of alternative cell sources like oral mucosal epithelial cells, aims to restore the corneal epithelium and improve visual outcomes. Gene therapy, while still in preclinical stages for Aniridia, offers a potential long-term solution by correcting the underlying genetic mutation. CRISPR/Cas9-based gene editing has demonstrated the potential to correct PAX6 mutations in animal models, opening new avenues for therapeutic development.
By leveraging our extensive expertise and state-of-the-art capabilities, Protheragen is at the forefront of Aniridia therapeutics development, offering a comprehensive suite of services to accelerate the discovery and development of novel therapeutics.
Our preclinical research services encompass a range of capabilities, from target identification and validation to the development of therapeutic candidates. We leverage cutting-edge technologies and methodologies to evaluate the safety and efficacy of new drugs and therapies in relevant animal models. If you are interested in our services, please feel free to contact us.
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