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Project Description

Please note that we are a research service provider, not a pharmacy or clinic, so we are unable to see patients and do not offer diagnostic and treatment services for individuals.

Cornea Plana

Cornea Plana (CP) represents a formidable challenge in ophthalmic genetics, typified by a markedly flattened cornea. As a research service provider, Protheragen is dedicated to advancing the science of vision health through our therapeutics development services, which encompass target identification, drug discovery, and preclinical research.

Overview of Cornea Plana

Cornea Plana (CP) is a rare genetic ocular disorder characterized by the flattening of the corneal curvature, leading to hypermetropia and a hazy corneal limbus. This condition significantly impacts vision and quality of life, necessitating specialized therapeutic interventions. The disorder presents in two forms: a milder autosomal dominant type I and a more severe autosomal recessive type II. Understanding the genetic basis of CP is crucial for developing targeted diagnostics and therapies.

Clinical features in autosomal recessive CP. CP: Cornea plana

Fig.1 Features in autosomal recessive cornea plana. (Khan T. A., et al., 2023)

Diagnostics Development for Cornea Plana

Genetic Sequencing and Mutational Analysis
The development of robust diagnostic tools for Cornea Plana is critical, with genetic sequencing leading the forefront. Identification of pathogenic mutations, such as N247S in the KERA gene, has been pivotal. Genetic tests employing high-throughput sequencing facilitate the detection of known and novel mutations, offering a clearer picture of the etiology and aiding in the precise diagnosis of the disease.

Molecular Diagnostic Techniques
Complementing genetic sequencing are molecular diagnostic techniques, including Northern and Western blotting. These methods evaluate gene expression levels and protein existence, offering insights into the pathological mechanisms at play. Understanding altered expression patterns aids in identifying potential therapeutic targets and establishing diagnostic biomarkers.

Therapeutics Development for Cornea Plana

Innovative Gene Therapy Approaches

Gene therapy holds tremendous promise for reversing the genetic defects responsible for Cornea Plana. Strategies involve delivering functional copies of genes or modifying existing gene sequences via cutting-edge vector systems. Gene therapy’s potential to restore keratocan functionality could revolutionize therapeutic paradigms, though further research and clinical trials are necessary to overcome delivery and ethical challenges.

Protein Supplementation and Replacement Technologies

Owing to the structural deficiencies caused by faulty protein expression, protein supplementation therapies are gaining traction. By providing the cornea with essential structural proteins, these therapies aim to ameliorate physical deformities associated with Cornea Plana. The feasibility of such therapeutics is being enhanced by advances in biotechnology, allowing for the synthesis of biologically active proteins in laboratory settings.

Our Services

Protheragen is at the forefront of developing therapeutics for Cornea Plana, leveraging our extensive experience in genetic research and ophthalmic therapeutics. Our services encompass the full spectrum of drug development, from target identification to preclinical studies.

Diagnostics Development

Karyotype Analysis Service
Omics Analysis Service
Biomarker Development Service
Artificial Intelligence Service
Customized Diagnostics Development

Therapeutic Development

Small Molecule Drug
Cell Therapy
Gene Therapy
Therapeutic Antibody
Therapeutic Peptide
Therapeutic Protein
Customized Therapy Development

Disease Models

Cornea Plana 1 (CNA1) Animal Models
KERA Gene Mutation Cornea Plana 2 (CNA2) Animal Models
Customized Disease Model Development

The development of effective therapies for Cornea Plana requires a deep understanding of the genetic aspects of the disease. Protheragen offers comprehensive preclinical research services to evaluate the safety and efficacy of potential Cornea Plana therapeutics. Our state-of-the-art facilities and experienced team conduct rigorous in vitro and in vivo studies to ensure that our drug candidates meet the highest standards of safety and efficacy. If you are interested in our services, please feel free to contact us.

References

Khan, Taimoor Ashraf, et al. "Cornea plana in a family from Pakistan: Case series and literature review on the principles of management." Oman Journal of Ophthalmology 16.2 (2023): 305-309.
Pellegata, Natalia S., et al. "Mutations in KERA, encoding keratocan, cause cornea plana." Nature genetics 25.1 (2000): 91-95.