Services

Navigating the landscape of rare dermatological disorders presents unique complexities for the scientific community. The path from initial discovery to a viable therapeutic solution is often hindered by a scarcity of foundational knowledge, limited affected populations, and a lack of specialized research tools. Protheragen is dedicated to partnering with you to address the core R&D needs and critical unmet needs within this field.

Introduction to Rare Skin Diseases

Rare skin conditions, though infrequent individually, collectively form a challenging area of biomedical research. These disorders are distinguished by their varied origins—frequently genetic—and a broad range of clinical presentations. The low incidence of these diseases creates substantial hurdles for research, including a lack of robust epidemiological data, a limited understanding of their underlying pathophysiology, and a dearth of targeted therapeutic solutions. Consequently, developing innovative diagnostic and therapeutic strategies for rare skin diseases remains a pressing priority in dermatology.

Figure 1. Timeline of key discoveries in genetics and their impact in dermatology for patients with rare inherited skin diseases. (Onoufriadis and McGrath, 2022)

Genetic research into rare skin diseases has evolved significantly over the past 50 years, moving from early methods like positional cloning to a new era of gene discovery driven by next-generation sequencing (NGS). The advent of technologies such as whole exome sequencing (WES) has revolutionized our ability to identify causative genes, redefine disease phenotypes, and understand underlying pathogenic variants. This has paved the way for the development of innovative, mechanism-based therapeutic strategies, including gene, cell, and protein therapies.

Key Challenges & Unmet Needs in Rare Kidney Disease R&D

Diagnostic Bottlenecks

Many rare skin diseases lack specific biomarkers or advanced diagnostic assays, leading to delayed or inaccurate identification. This highlights a significant unmet need for efficient and reliable diagnostic tools.

Limited Translational Models

The scarcity of reliable, predictive disease models (in vitro and in vivo) impairs the study of disease mechanisms and the evaluation of potential drug candidates. There is a strong demand for more accurate models that better recapitulate human pathology.

Target Identification & Validation

The genetic and pathophysiological diversity of these disorders complicates the process of pinpointing and validating effective therapeutic targets. This represents a major hurdle in advancing novel therapeutic approaches.

Paucity of Innovative Therapies

The current therapeutic landscape often relies on supportive care, lacking solutions that can modify or cure the underlying disease. The unmet need for curative or disease-modifying therapeutic strategies is substantial.

Disease Areas of Focus

Protheragen is deeply committed to scientific discovery and technological innovation, constantly working to unravel the complexities of a wide array of rare dermatological diseases. Our expertise spans various categories, allowing us to address the unique challenges of each condition.

Comprehensive Services

Diagnostics Development

Protheragen is committed to unlocking the complexities of rare dermatological disorders. By offering a full spectrum of services—from diagnostic innovation to therapeutic advancement, disease model creation, and preclinical investigation—we empower our partners to overcome these challenges.

• Biomarker Development

• Diagnostic Kit Development

Therapeutic Development

Protherage's focus is on creating new therapeutic interventions for rare skin diseases. Our research drives breakthroughs via drug discovery, target validation, and preclinical refinement.

• Small Molecule Drug
• Cell Therapy
• Gene Therapy

• Therapeutic Antibody
• Therapeutic Peptide
• Therapeutic Protein

Disease Model Development

Protheragen excels at developing relevant disease models that accurately reflect rare skin disease pathology. These models are crucial for investigating disease mechanisms and evaluating drug candidates.

• 2D Cell Model Development
• 3D Skin Model Development

• Animal Models Development

DMPK & Toxicology Evaluation

Protheragen offers comprehensive preclinical research, which help clients assess the safety and effectiveness of potential therapies, aiding their progression to clinical application.

• In Vitro ADME Services
• In Vivo Pharmacokinetics Services

• Drug Safety Evaluation

Why Partner with Us?

Protheragen delivers bespoke, end-to-end therapeutic development solutions for rare skin diseases, tailored to your unique needs. We also provide specialized reagents and products to support your scientific pursuits and advance nephrology research.

Protheragen is dedicated to offering comprehensive, one-stop preclinical development services, encompassing everything from disease model development to innovative therapy research, along with specialized support in DMPK and drug safety evaluation. If you are interested in our services, please don't hesitate to contact us.

Reference

• Onoufriadis, A., and J. A. McGrath. "The Past and Future of Rare Skin Disease Research and Therapy." J Invest Dermatol 142.4 (2022): 1010-14.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.