Biomarker Analysis Services for Stargardt Disease
At Protheragen, we deliver specialized biomarker analysis services exclusively for Stargardt disease research and preclinical drug development. Our comprehensive biomarker panel is designed to facilitate a deep understanding of Stargardt disease pathophysiology, supporting the identification and evaluation of molecular targets throughout the discovery and preclinical development pipeline. Please note that all services are strictly limited to research and drug discovery applications and do not include clinical diagnostic services.
Effective therapeutic intervention for Stargardt disease begins with robust biomarker discovery and identification. Protheragen's biomarker discovery services leverage advanced molecular profiling and bioinformatics to reveal and characterize candidate biomarkers relevant to disease mechanisms. Our systematic approach includes high-throughput screening of gene, protein, and metabolite candidates, followed by rigorous validation steps to confirm their relevance and utility in the drug development process. These services are integral to target identification, mechanism-of-action studies, and preclinical efficacy assessments.
Multi Omics: Our multi-omics approach integrates cutting-edge genomics, transcriptomics, proteomics, and metabolomics technologies to enable a comprehensive study of biological systems implicated in Stargardt disease. Through next-generation sequencing, RNA expression profiling, quantitative proteomics, and metabolite analysis, we identify and characterize DNA, RNA, protein, and metabolite biomarkers. This holistic strategy enables the elucidation of critical pathways involved in retinal degeneration, photoreceptor cell health, and retinoid metabolism, which are central to Stargardt disease pathogenesis.
Candidate Validation: Protheragen employs a suite of validation strategies to assess candidate biomarkers for their association with Stargardt disease pathophysiology. Preliminary screening includes statistical evaluation of candidate-biomarker relationships, functional assays, and cross-validation using independent sample sets. Criteria for prioritizing promising candidates include biological relevance, reproducibility, specificity to disease mechanisms, and suitability for downstream assay development. This rigorous process ensures that only the most relevant biomarkers advance to further research stages.
Diverse Technological Platforms: Our custom assay development capabilities span a variety of technological platforms, enabling precise adaptation to the unique requirements of Stargardt disease research. We offer the flexibility to tailor assays for gene, protein, or metabolite quantification, utilizing state-of-the-art instrumentation and software for optimal sensitivity, specificity, and throughput.
Immunoassays: We develop and implement immunoassays such as ELISA, chemiluminescent assays, and multiplex bead-based platforms for sensitive and specific quantification of protein biomarkers.
Mass Spectrometry: Our LC-MS/MS platforms provide high-resolution, quantitative analysis of proteins, peptides, and metabolites relevant to Stargardt disease.
Flow Cytometry: We utilize flow cytometry for multiparametric analysis of cell populations, including surface and intracellular biomarker detection.
Molecular Diagnostics: Our molecular diagnostic capabilities include PCR, qPCR, digital PCR, and next-generation sequencing for detection of gene variants and transcriptomic changes.
Histopathology And Imaging: We offer histopathological analysis and advanced imaging techniques to assess tissue-level biomarker expression and localization within retinal samples.
Rigorous Method Validation: All analytical methods undergo rigorous validation in accordance with established research guidelines. We assess performance characteristics such as accuracy, precision, sensitivity, specificity, linearity, and reproducibility. Comprehensive quality control measures are implemented throughout the workflow to ensure data integrity and reliability in the preclinical research context.
Protheragen's quantitative analysis capabilities support robust measurement of biomarker abundance and dynamics across diverse sample types. We employ standardized protocols, calibration strategies, and reference materials to ensure accurate and reproducible quantification, enabling meaningful interpretation of biomarker data for Stargardt disease research.
Sample Analysis: We handle a wide range of sample types, including retinal tissue, cell lysates, plasma, and serum, following standardized protocols for sample preparation and analysis. Stringent quality assurance measures are applied at every step to minimize variability and ensure the reliability of biomarker data. Our procedures are optimized for the preservation of labile molecules and the integrity of low-abundance biomarkers.
High Throughput Capabilities: Our high-throughput, multiplexed analytical platforms enable the simultaneous analysis of multiple biomarkers from limited sample volumes. These capabilities increase efficiency, reduce turnaround time, and conserve valuable preclinical samples, supporting large-scale screening and candidate prioritization in Stargardt disease research.
| Gene Target | Biological Function | Application as a Biomarker |
|---|---|---|
| ATP binding cassette subfamily A member 4 (ABCA4) | ATP binding cassette subfamily A member 4 (ABCA4) is a transmembrane protein that belongs to the ATP-binding cassette (ABC) transporter family. It is predominantly expressed in the retina, specifically in photoreceptor cells. ABCA4 functions as a flippase, facilitating the transport of all-trans-retinal and its derivatives across photoreceptor disc membranes. This activity is essential for the clearance of potentially toxic retinoid compounds generated during the visual cycle, thereby maintaining photoreceptor cell health and visual function. | Mutations in the ABCA4 gene are associated with several inherited retinal dystrophies, most notably Stargardt disease (STGD1), cone-rod dystrophy, and autosomal recessive retinitis pigmentosa. Genetic testing for ABCA4 variants is used in the molecular diagnosis of these conditions, aiding in differential diagnosis, prognosis, and eligibility assessment for clinical trials targeting inherited retinal diseases. |
| retinoid isomerohydrolase RPE65 (RPE65) | Retinoid isomerohydrolase RPE65 (RPE65) is an essential enzyme in the visual cycle, primarily expressed in the retinal pigment epithelium (RPE). RPE65 catalyzes the isomerization of all-trans-retinyl esters to 11-cis-retinol, a critical step in the regeneration of 11-cis-retinal, the chromophore required for phototransduction in rod and cone photoreceptor cells. This process enables the continuous supply of 11-cis-retinal necessary for the maintenance of visual function. Mutations in RPE65 disrupt this pathway, leading to impaired visual pigment regeneration and retinal dystrophies. | RPE65 is used as a molecular marker for identifying and characterizing retinal pigment epithelium cells and their functional status. Its expression is assessed in studies of retinal development, disease, and in the evaluation of cell-based therapies targeting retinal disorders. Genetic analysis of RPE65 is applied in the diagnosis and classification of inherited retinal diseases, such as Leber congenital amaurosis and retinitis pigmentosa, where pathogenic variants in the RPE65 gene are implicated. |
| retinol binding protein 4 (RBP4) | Retinol binding protein 4 (RBP4) is a member of the lipocalin family and serves as the principal carrier of retinol (vitamin A alcohol) in the blood. Synthesized primarily in the liver, RBP4 binds retinol and forms a complex with transthyretin to facilitate the transport of retinol from hepatic stores to peripheral tissues. This transport is essential for the delivery of vitamin A to cells, which is crucial for processes such as vision, immune function, and cellular differentiation. RBP4 can also be produced by adipose tissue, and its circulating levels are regulated by factors such as nutritional status and renal function. | RBP4 has been investigated as a biomarker in several clinical contexts. Elevated circulating levels of RBP4 have been associated with insulin resistance and type 2 diabetes in multiple studies. Additionally, changes in RBP4 concentrations have been observed in conditions affecting renal function, such as chronic kidney disease, due to its filtration and reabsorption dynamics in the kidney. RBP4 has also been explored as a marker for vitamin A status, particularly in populations at risk for deficiency. Its measurement in serum or plasma is used in research and clinical studies to assess its relationship with metabolic and renal disorders. |
Explore Research Opportunities with Protheragen. Our biomarker research services offer advanced technologies and scientific expertise to support the discovery, characterization, and preclinical evaluation of biomarkers for Stargardt disease. All biomarkers discussed herein are research targets only; we do not claim them as validated or mandatory for any application. Our work is focused exclusively on exploratory research and preclinical development stages, maintaining scientific objectivity and flexibility to adapt to evolving research needs.
We invite you to engage with Protheragen for discussions about exploratory biomarker research in Stargardt disease. Our collaborative approach emphasizes scientific exchange and innovation, supporting the advancement of knowledge in preclinical biomarker discovery and analysis.
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