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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.

Ocular Coloboma

The development of effective therapies for ocular coloboma requires a multifaceted approach, combining advanced diagnostic techniques with innovative therapeutic strategies. Protheragen is dedicated to pushing the boundaries of this field, offering a range of services that span from genetic analysis to preclinical research.

Overview of Ocular Coloboma

Ocular coloboma is a developmental disorder characterized by the presence of a hole in one of the eye's structures, including the iris, retina, choroid, or optic disc. This condition arises from the incomplete closure of the embryonic optic fissure, leading to a spectrum of clinical manifestations collectively known as the Microphthalmia, Anophthalmia, Coloboma (MAC) complex. The incidence of ocular coloboma is relatively low, affecting less than one in every 10,000 births, yet it accounts for a significant proportion of childhood blindness.

Transcriptome profiling of chicken optic fissure closure.

Fig.1 Transcriptome analysis of chicken optic fissure closure. (Trejo-Reveles V., et al., 2023)

Diagnostics Development for Ocular Coloboma

Recent advancements in genetic research have emphasized the identification of novel candidate genes associated with ocular coloboma. For instance, integrative gene expression analyses across multiple vertebrate species have highlighted genes such as ALDH1A3, BMPR1B, EMX2, EPHB3, NID1, NTN1, PAX2, SMOC1, TENM3, and VAX1. These genes have been identified based on their enriched expression profiles during optic fissure development.

Next-generation sequencing (NGS) technologies have revolutionized the field, enabling the identification of causative variants in cases with MAC. For instance, targeted gene panels and whole genome sequencing have led to a genetic diagnosis rate of up to 33% in MAC cases, with panels now including over 86 different genes.

Therapeutics Development for Ocular Coloboma

Gene Therapy
Gene therapy represents a promising frontier in the therapeutics of ocular coloboma. By delivering functional copies of genes, such as PAX2, directly to the affected ocular tissues, gene therapy aims to correct the underlying genetic defect and restore normal ocular development. Preclinical studies have shown promising results in animal models, with improvements in ocular structure and function post-therapeutics.

Stem Cell Therapy
Stem cell therapy is another area of active research in the context of ocular coloboma. The potential of induced pluripotent stem cells (iPSCs) to differentiate into various ocular cell types offers a regenerative approach to therapy. Studies are underway to explore the use of iPSCs in repairing or replacing damaged ocular tissues in colobomatous eyes.

Our Services

By leveraging our expertise in gene therapy and drug development, we aim to provide customized ocular coloboma diagnostics and therapeutic development services to meet the needs of global pharmaceutical companies.

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

Ocular Coloboma Mouse Models
Ocular Coloboma Zebrafish (Danio rerio) Models
Ocular Coloboma Chick (Gallus gallus) Models

At Protheragen, our preclinical research services, including pharmacokinetic and toxicology studies, are dedicated to advancing the understanding of ocular coloboma and exploring novel therapeutic approaches. We employ state-of-the-art in vivo models and gene editing technology to investigate the roles of newly identified genes, thereby laying the groundwork for future therapeutics development. If you are interested in our services, please feel free to contact us.

Reference

Trejo-Reveles, Violeta, et al. "Identification of novel coloboma candidate genes through conserved gene expression analyses across four vertebrate species." Biomolecules 13.2 (2023): 293.