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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.

X-linked Juvenile Retinoschisis (XLRS)

X-linked Juvenile Retinoschisis (XLRS) usually appears in early childhood, when children begin to notice things like faced difficulty concentrating, low reading skills, and decreased visual acuity. Protheragen is a leading provider of comprehensive services for X-linked juvenile diagnostics and therapy development.

Overview of X-linked Juvenile Retinoschisis (XLRS)

XLRS (X-linked juvenile retinoschisis) is a disorder of the retina that primarily affects men, resulting in a detachment of the retinal layers which leads to vision impairment. The multiplication in this condition stems from mutations of the RS1 gene responsible for encoding the retinoschisin protein which is crucial in preserving the retina. It is estimated that the prevalence of XLRS is between 1 in 5,000 and 1 in 20,000. Hence, X-linked juvenile retinoschisis appears to be one of the common forms of inherited retinal dystrophy.

Fig.1 Generation of RS1-KI mice. (Chen D., et al., 2018)

Diagnostics Development for X-linked Juvenile Retinoschisis

Genomic analysis of the RS1 gene is important for the diagnosis of XLRS. Sanger sequencing remains the most effective method to identify mutations in RS1 with documented over 200 disease-causing mutations. Diagnostically, genetic testing not only identifies the condition but is also helpful in both genetic counseling and family planning. For instance, target-specific mutations can be useful prognosis predictors and therapeutic strategies.

Therapeutics Development for X-linked Juvenile Retinoschisis

Gene Therapy

XLRS therapeutic has seen unprecedented results by developing gene therapy. Research has shown transformed AAV vectors containing functional copies of the RS1 gene can be introduced into XLRS mouse models to restore retinal structure and even its functions. For example, the subretinal administration of rAAV vectors with the human RS1 gene has long-term induced retinoschisin expression, resulting in better retinal morphology and function. This method can stop further damage to the eye and restore vision for people suffering from this ailment.

Small Molecule Drugs

Some studies have indicated that the small molecule, topical dorzolamide may be useful in decreasing retinoschisis cavities in certain cases. Improvement in the structure of the retinal tissue may be achieved as a result of the inhibition of a carbonic anhydrase enzyme activity by dorzolamide which helps in suppressing fluid accumulation within the retina. Its long-term efficacy is still under investigation but initial studies have shown positive outcomes in some cases.

Our Services

Protheragen offers comprehensive services for the development of diagnostics and therapeutics for X-linked Juvenile Retinoschisis. Our expertise spans from genetic analysis to the development of innovative therapeutic strategies.

Genetic and Molecular Analysis Service
We provide preclinical testing which encompasses an in-depth examination of BEST1 mutations. We use new sequencing technologies and functional tests to elucidate the mechanisms of BVMD disease. Such knowledge is essential for the development of disease-modifying therapies.
Drug Screening and Efficacy Study Service
Protheragen performs in-depth preclinical drug screenings and efficacy studies to determine new therapeutic candidates. These tasks are facilitated by our advanced facilities that permit drug mechanisms to be subjected to thorough analysis as well as screening for BVMD therapeutics to be aided by high-throughput screening.

Diagnostics Development

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

Therapeutic Development

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

Preclinical Research

Pharmacodynamics Study Services
Pharmacokinetics Study Services
Drug Safety Evaluation Services

Disease Models

Rs1 Knockout Mouse Model with LacZ Reporter Gene
Rs1 C59S Point Mutant Mouse Model
Rs1 R141C Point Mutant Mouse Model
Rs1 Y65X Knock-in Mouse Model
Human Induced Pluripotent Stem Cell (hiPSC)-Derived 3D Retinal Organoid Model

Underpinning our diagnostic and therapeutic offerings is a robust preclinical research infrastructure. Protheragen's world-class facilities and specialized animal models allow us to rigorously evaluate novel therapies, assess their safety and efficacy, and generate the critical data needed to advance promising candidates into human trials. If you are interested in our services, please feel free to contact us.

References

Chen, Ding, et al. "Recapitulating X-linked juvenile retinoschisis in mouse model by knock-in patient-specific novel mutation." Frontiers in Molecular Neuroscience 10 (2018): 453.
Strupaitė, Rasa, et al. "X-linked juvenile retinoschisis: phenotypic and genetic characterization." International Journal of Ophthalmology 11.11 (2018): 1875.
Molday, Robert S., Ulrich Kellner, and Bernhard HF Weber. "X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms." Progress in retinal and eye research 31.3 (2012): 195-212.