Iridogoniodysgenesis (Dominant Type)

Iridogoniodysgenesis (Dominant Type, type 1, IRID1) is a complex genetic disorder with significant implications for vision and overall quality of life. As a research service provider, Protheragen is at the forefront of diagnostics and therapeutics development for Iridogoniodysgenesis.

Overview of Iridogoniodysgenesis

Iridogoniodysgenesis is a group of inherited eye disorders characterized by abnormalities in the development of the iris and the iridocorneal angle tissue, leading to goniodysgenesis and increased intraocular pressure, which can result in juvenile glaucoma. The dominant type of IRID1 is inherited in an autosomal dominant pattern, with genetic mutations playing a crucial role in its pathogenesis.

The genetic basis of IRID1 has been a significant area of research, leading to the discovery of mutations in the RIEG1 gene on chromosome 4q25. This gene encodes a homeobox protein, which is a transcription factor involved in the development of the anterior segment of the eye. Mutations in RIEG1 result in the production of an aberrant protein, leading to the characteristic ocular abnormalities seen in IRID1.

Diagnostics Development for Iridogoniodysgenesis

Genetic Diagnostics

The advent of genetic testing has revolutionized the diagnostics of IRID1. Identification of specific mutations in the RIEG1 gene allows for a definitive diagnosis. This genetic information is crucial for understanding the disease's inheritance patterns and for providing genetic counseling to families.

Therapeutics Development for Iridogoniodysgenesis

Gene Therapy and Molecular Approaches
Gene therapy presents a promising avenue for IRID1 therapeutics, aiming to correct genetic defects at their source. Innovative techniques like CRISPR-Cas9 and antisense oligonucleotides are under investigation to potentially rectify mutations within ocular tissues affected by IRID1.
Research studies have demonstrated the feasibility of utilizing adenoviral vectors to deliver CRISPR-Cas9 components specifically targeting PITX2 mutations, with successful gene editing in vitro and in animal models, setting a foundation for translational applications in humans.
Drug and Other Therapeutic Approaches
While pharmacological management mainly targets the secondary complications of IRID1, such as elevated intraocular pressure, drugs like prostaglandin analogs and beta-blockers are standard in controlling glaucoma associated with this disorder. However, novel compounds aimed at modulating the underlying genetic and molecular pathways of anterior segment development are emerging.
Small molecule modulators, acting on key signaling pathways disrupted by PITX2 mutations, are being explored for their potential to restore normal cellular function and structural integrity in the affected ocular tissues.

Our Services

As a research services provider, Protheragen offers customized iridogoniodysgenesis diagnostics and therapeutic development solutions based on the unique needs of each project. Our team of experts works closely with clients to understand their specific needs and develop targeted therapeutic development strategies.

Diagnostics Development

Therapeutic Development

Disease Models

RIEG Mutation Animal Models
Pitx2 Mutation Mouse Models
Foxc1 Mutation Mouse Models
fgf19 Mutation Zebrafish Models

Preclinical Research

Our preclinical research services are tailored to explore and elucidate the underlying mechanisms of IGDS, offering a platform for the development of innovative therapeutic strategies. Protheragen's dedicated team of scientists employs cutting-edge technologies and methodologies to conduct comprehensive analyses, including:

Genetic and Molecular Characterization: Utilizing advanced genomic and transcriptomic tools to dissect the molecular underpinnings of IGDS.
Functional Assays and Bioinformatics: Implementing high-throughput screening and bioinformatics approaches to identify and validate potential drug targets.
In Vivo Modeling and Phenotyping: Leveraging genetically engineered animal models to mimic human IGDS pathology, facilitating the assessment of therapeutic safety and efficacy.

If you are interested in our services, please feel free to contact us.

Reference

Ali, Afshan, Mahmood Ali, and Farah Akhtar. "Iridogoniodysgenesis: A Challenging Case." Journal of the College of Physicians and Surgeons Pakistan 28.5 (2018): 401-402.