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A focused broad approach which includes top-notch genetic screening and novel therapeutics development is required to formulate successful strategies for the diagnostics and therapeutics of epibulbar dermoids. Protheragen leads this pioneer's charge, delivering unparalleled therapeutic development services.
Epibulbar dermoids are developmental cysts located on the conjunctival portion of the sclera which is a form of ocular dermoids. They represent a relatively common ocular surface abnormality that may be unilateral or bilateral and of variable size ranging from small to large. Epibulbar dermoids sometimes accompany more complex syndromes like Goldenhar syndrome which is characterized by other anomalies such as preauricular tags, facial asymmetry, and other craniofacial deformities.
Combined factors such as genetic mutation and abortion of embryonic processes are the impetus for epibulbar dermoid disease. Important to note is the mutation within the Patched 1 (PTCH1) gene which is responsible for the receptor protein of the Hedgehog signaling path. Embryonic development of tissue necessitates the coordination of a multitude of events and this specific pathway is one such integral event.
Genetic Testing
Research is now increasingly concentrating on pathogenic alterations associated with the PTCH1 gene as part of genetic study of epibulbar dermoid. The mutations serve to explain the diagnosis as well as to illuminate some of the genetic construction of the condition.
Histopathological Examination
The diagnosis of epibulbar dermoid is definitive through histopathological examination of the biopsy specimens. Analysis under the microscope displays the presence of skin components amongst other features. This method is very effective in complicated cases that are difficult to interpret.
Protheragen provides a complete service package focused on diagnostics and therapeutic development for epibulbar dermoid. We cover the entire process of genetic consulting, histopathological study, and the development and verification of new therapeutic agents with the use of AI and phytochemicals.
Protheragen conducts rigorous preclinical testing of novel therapies, including gene and stem cell therapies, using animal models of epibulbar dermoid. If you are interested in our services, please feel free to contact us.
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