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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.

Iris Hypoplasia with Glaucoma

Understanding the molecular and genetic underpinnings of iris hypoplasia with glaucoma is crucial for developing effective diagnostic and therapeutic strategies. Protheragen offers customized diagnostic and therapeutic solutions designed to target the specific genetic and molecular pathways involved in Iris Hypoplasia with Glaucoma.

Overview of Iris Hypoplasia with Glaucoma

Iris hypoplasia with glaucoma refers to a spectrum of developmental eye disorders characterized by underdevelopment of the iris and its associated structures, leading to increased intraocular pressure and potential optic nerve damage. This condition can manifest in various forms, with primary congenital glaucoma (PCG) being the most common type, affecting infants and young children. The disease is often genetic, with mutations in genes such as CYP1B1, LTBP2, and TEK implicated in its pathogenesis. Glaucoma in these cases is a significant cause of preventable blindness worldwide, emphasizing the need for effective diagnostics and therapies.

Fig.1 Major genes involved in iris development. (Daruich A., et al., 2023)

Diagnostics Development for Iris Hypoplasia with Glaucoma

High-throughput sequencing, such as Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS), is transforming our ability to diagnose this condition. These approaches allow for the comprehensive analysis of the genetic material, identifying mutations in key genes such as FOXC1 and PITX2. Such powerful tools not only help determine the genetic basis of the condition but also enable precision medicine strategies tailored to individual genetic profiles.

The identification of mutations in FOXC1 and PITX2 genes has been pivotal in understanding this condition. For instance, duplications or deletions on chromosome 6p25 involving FOXC1 have been directly linked to ocular developmental anomalies seen in patients with Iris Hypoplasia. Similarly, pathogenic variants in PITX2 are known to disrupt ocular angioarchitecture, emphasizing the crucial role of these genes in diagnosis and therapeutic decision-making.

Therapeutics Development for Iris Hypoplasia with Glaucoma

Gene Therapies
Gene therapy offers a promising avenue for therapeutics by directly addressing the underlying genetic defects. Techniques such as CRISPR/Cas9 and viral vector-mediated gene delivery systems are being explored to correct pathogenic mutations in affected individuals. These methodologies aim to restore normal gene function, potentially arresting disease progression or even reversing ocular damage.

Small Molecule Drugs
Small molecule drugs for glaucoma associated with iris hypoplasia involve the use of medications that lower intraocular pressure. Prostaglandin analogs, beta-blockers, and alpha-agonists are among the drugs used to achieve this. Recent developments include the use of ROCK inhibitors, which have shown promise in reducing intraocular pressure by enhancing the outflow facility.

Our Services

With extensive experience, Protheragen is committed to providing professional diagnostics and therapy development services for iris hypoplasia with glaucoma. Leveraging our expertise in molecular biology, we are developing targeted genetic therapies to correct or compensate for the mutations causing iris hypoplasia with glaucoma. These therapies aim to restore normal gene function, potentially halting or reversing the disease process.

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

CYP1B1 Mutation Animal Models
LTBP2 Mutation Animal Models
TEK Mutation Animal Models
Customized Disease Model Development

Protheragen's preclinical research services are dedicated to the discovery and validation of new therapeutic strategies for iris hypoplasia with glaucoma. Our state-of-the-art facilities and experienced team conduct rigorous testing to ensure the efficacy and safety of new therapeutics. If you are interested in our services, please feel free to contact us.

References

Daruich, Alejandra, et al. "Congenital aniridia beyond black eyes: from phenotype and novel genetic mechanisms to innovative therapeutic approaches." Progress in retinal and eye research 95 (2023): 101133.
Iureva, Tatiana, Andrey Shchuko, and Yulia Pyatova. "Diagnostics and Prediction of Glaucoma in Patients with Familial Congenital Iris Hypoplasia." Open Journal of Ophthalmology 5.3 (2015): 115-123.