In the field of rare skin disease diagnostics, the development of accurate and reliable diagnostic tests is crucial for effective disease prevention and therapy development. Our company is committed to providing cutting-edge diagnostics development services to address the challenges posed by rare skin diseases. By integrating the latest scientific research and technological innovations, we ensure comprehensive support from proof of concept to product realization.
Overview of Rare Skin Diseases Diagnostics Development
Developing diagnostics for rare skin diseases involves unique challenges due to the diversity and complexity of these conditions. As research progresses, the diagnostic landscape is evolving to include advanced technologies that enhance accuracy and efficiency.
Fig.1 Diagnostic opportunities based on skin biomarkers. (Paliwal, S.,
et al., 2013)
Diagnostics Development for Rare Skin Diseases
The field of diagnostics for rare skin diseases has seen significant advancements, with research and technology addressing the unique challenges these conditions present. These innovations are crucial for improving early detection, understanding the molecular mechanisms, and facilitating targeted therapeutic approaches. Several key developments highlight the progress being made:
- Genomic Insights and High-Throughput Sequencing
The advent of high-throughput sequencing technologies, such as whole exome sequencing and whole genome sequencing, has revolutionized the ability to identify genetic mutations associated with rare skin disorders. This progress enables precise diagnosis and personalized medical strategies.
- CRISPR and Gene Editing Technologies
CRISPR-based techniques are not only advancing the therapeutic landscape but also diagnostics. By enabling precise modifications and the creation of detailed disease models, these technologies enhance our understanding and facilitate the development of targeted diagnostic assays.
- Biomarker Discovery and Omics Integration
The integration of multi-omics approaches—combining genomics, proteomics, and metabolomics—has led to the identification of novel biomarkers that are pivotal in the early diagnosis of rare skin diseases. This multi-faceted approach fosters the creation of sophisticated assays with improved sensitivity and specificity.
Circular RNA: Potential Biomarker for Skin Diseases
Circular RNA (circRNA) emerges as a novel potential biomarker for skin diseases, characterized by its unique covalent closed-loop structure that confers remarkable stability and expression specificity.
Table 1. CircRNAs in skin diseases. (Wu, X., et al. 2020)
| Diseases |
CircRNA |
Targeting miRNAs or genes |
Mechanisms |
| Malignant melanoma |
circ_0084043 |
miR-153-3p |
Functions as an oncogene in melanoma by sponging miR-153-3p to reduce Snail levels. |
| Basal cell carcinoma (BCC) |
circ_0035381 |
hsa-miR-124-5p / hsa-miR-9-5p |
Linked to cSCC progression via circRNA microarray, with circRNA-miRNA axes participating in cancer-related pathways. |
| KSHV -induced skin oncogenesis |
circ_0001400 |
KSHV gene (RTA and LANA) |
Inhibits KSHV and key viral gene expression, potentially by activating host defense pathways. |
| Arsenite -induced skin oncogenesis |
circLRP6 |
miR-455 |
Facilitates malignant transformation by sponging miR-455, leading to upregulation of its target ZEB1, and subsequently inducing EMT. |
| Infantile hemangioma |
circ_005537 |
let-7c-3p |
Potentially involved in neovascularization mechanisms, biological processes, molecular functions, and signaling pathways. |
| circ_104310 |
miR-216a-3p |
Disclaimer: Protheragen focuses on providing preclinical research services. This table is for information exchange purposes only. This table is not a treatment plan recommendation. For guidance on treatment options, please visit a regular hospital.
Our Services
At our company, we take pride in providing a comprehensive suite of services to advance diagnostics development for rare skin diseases. Our team of expert scientists and dermatologists utilizes state-of-the-art technologies and profound expertise to propel your diagnostic projects forward, ensuring precision and innovation at every stage of development.
Workflow of Diagnostics Development
Our service workflow in diagnostics development encompasses a sequential, four-step process focused on preclinical services, covering biomarker discovery, assay validation, prototype development, and culminating in diagnostic kit refinement, excluding clinical trials and regulatory approvals.
Biomarker Discovery
Assay Development
Prototype Development
Preclinical Validation
Rare skin diseases Diagnostics Development Services
we recognize the critical need for accurate diagnostics in the development of therapies for rare skin diseases. Our diagnostics development services are designed to support every stage of diagnostic innovation.
Diagnostics Development Services
- Biomarker Discovery and Development
- Diagnostic Kit Development
Types of Rare Skin Diseases
Why Choose Us?
Our team of experts brings a wealth of knowledge and innovative approaches to the table, making us the go-to choice for all your drug development needs. With a focus on staying ahead of the curve, our team members are constantly striving to expand their expertise and stay up-to-date with the latest advancements in pharmaceutical research and development.
At our company, we are dedicated to offering extensive, one-stop preclinical development services, encompassing everything from disease model development to innovative therapy research. If you are interested in our services, please don't hesitate to contact us.
References
- Paliwal, S., et al. "Diagnostic Opportunities Based on Skin Biomarkers." Eur J Pharm Sci 50.5 (2013): 546-56.
- Wu, X., et al. "Circular Rna: A Novel Potential Biomarker for Skin Diseases." Pharmacol Res 158 (2020): 104841.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
