As a leading provider of preclinical research services, Protheragen specializes in delivering end-to-end in vitro diagnostic (IVD) development services for rare diseases. Our comprehensive solutions encompass the entire workflow from biomarker discovery, assay development to preclinical validation, supporting our clients in transitioning from diagnostic research to commercialization seamlessly.

Cutting-Edge Technology & Expertise

End-to-End Rare Disease Focus

Customized & Scalable Solutions

Diagnostic Challenges for Rare Diseases

Rare diseases are usually defined as diseases that affect fewer than 1 in 2000 people, with over 300 million people worldwide affected by them. These diseases are characterized by low prevalence, high diversity (with over 7000 identified diseases), and often severe or life-threatening nature, posing unique challenges in healthcare, especially in terms of diagnosis.

Limited Awareness & Expertise

Due to the low incidence of individual rare diseases, many medical staff lack knowledge of these diseases, resulting in a low diagnostic suspicion. This often leads to delayed diagnosis, and patients need to go through multiple referrals and misdiagnoses before receiving the correct diagnosis.

Complex & Heterogeneous Presentations

Symptoms of rare diseases are often highly variable, similar to those of common diseases, or exhibit significant phenotypic differences among affected individuals, making pattern recognition and accurate clinical diagnosis difficult without specialized testing.

Inadequate Diagnostic Tools

Conventional diagnostic methods often fail to detect rare diseases due to insufficient sensitivity or disease-specific biomarkers. Many ultra-rare conditions lack validated commercial tests altogether, as limited patient populations hamper the motivation for commercial development.

Data Fragmentation & Access Barriers

Geographically dispersed patient populations and siloed health data systems impede comprehensive research and clinical knowledge sharing. Additionally, advanced diagnostic technologies remain inaccessible in many regions due to high costs and infrastructure requirements.

Rare Diseases in Focus

At Protheragen, we concentrate on high-impact rare diseases where diagnostic gaps are most critical. By focusing our expertise on these underserved areas, we develop targeted diagnostic solutions that address the unique challenges of each disease category. Our approach combines deep scientific understanding with innovative technologies to create accurate, accessible tests that shorten diagnostic odysseys and enable timely interventions.

Genetic
Diseases

Infectious
Diseases

Autoimmune
Diseases

Metabolic
Diseases

Here are some examples of rare diseases for our focus:

Comprehensive Diagnostic Development Solutions for Rare Diseases

Protheragen specializes in diagnostic development for rare diseases, offering a comprehensive one-stop solution that includes IVD reagents/kits, IVD equipment, point-of-care testing (POCT), and companion diagnostic development services. We adhere to stringent development processes, ensuring high-quality and reliable solutions that meet regulatory standards and cater to the unique needs of our clients in the field of rare disease diagnostics.

IVD Reagent/Kit Development

To comprehensively address diverse diagnostic needs in the field of rare diseases, we focus on developing a variety of types of IVD reagents/kits, including antigen, antibody, nucleic acid, metabolite, and microbial detection products.

IVD Device Development

Protheragen is dedicated to the design and development of advanced IVD devices. From concept development to prototype manufacturing, our team ensures these devices meet the highest standards of performance and usability.

POCT Development

Specializing in point-of-care testing (POCT) development, we prioritize the creation of rapid and precise diagnostic solutions. These tools are portable and easy to use, enabling decentralized diagnostics in home and community settings.

Companion Diagnostic Development

Companion diagnostics can identify specific biomarkers to help tailor personalized treatment plans for patients. Protheragen focuses on the development of companion diagnostics that meet the latest scientific advances and regulatory standards.

GeniusAb™ Platform for Precision Diagnostic Antibody Development

GeniusAb™ platform utilizes proprietary transgenic mice to develop fully human single-domain antibodies (sdAbs) with outstanding affinity, stability, and penetrance. These compact (12-15 kDa), low-immunogenicity antibodies enable breakthrough diagnostic applications, including ultra-sensitive biomarker detection, multiplexed assays, and enhanced point-of-care testing (POCT). These unique sdAbs outperform traditional antibodies in terms of heat resistance and binding precision, supporting next-generation diagnostic technologies ranging from liquid biopsies to rapid screening.

Why Choose Us?

01

Deep Rare Disease Expertise

Rich experience in rare disease diagnostic development, with success in genetic, infectious, metabolic diseases, etc.

02

Integrated Technology Platforms

Covering comprehensive technical platforms such as PCR, NGS, biochemical testing, microfluidics, etc.

03

Faster Development Timelines

Optimized workflows and modular assay designs accelerate development cycles by 30-50%.

04

Patient-Centric Innovation

Collaborate with patient advocacy groups and clinicians to develop diagnostics that solve real-world challenges.

FAQs