One Stop Solutions for Rare Disease Drug Discovery & Development

Protheragen is a service provider specializing in providing comprehensive one-stop solutions for preclinical drug discovery & development targeting rare diseases. We offer a full range of services, including biomarker discovery, customized assay design, in vitro and in vivo model development, pharmacokinetic analysis, and safety evaluation. With a global focus, we aim to support pharmaceutical companies and researchers in accelerating the development of innovative therapeutics for rare diseases. Our expertise, combined with client-centric approach, ensures the delivery of high-quality results tailored to meet the unique needs of each project.

Animal Models

What Is a Rare Disease?

Rare diseases are those conditions that affect a population proportionate to 0.65-1 per cent, according to the World Health Organization (WHO). Although rare diseases are not common, more than 7,000 identified types of rare disease exist in the world and 300 million patients have them. They typically emerge as inherited, multifactorial, fatal, degenerative, autoimmune, systemic, chronic, life-threatening or fatal disease patterns.

What Are the Types of Rare Diseases?

Due to the complexity and diversity of rare diseases, diagnosis and treatment are more challenging, but the study of these diseases is important for the advancement of science.

Current Status of Research on Rare Diseases

• Advances in Therapeutic Technology
Techniques for the treatment of rare diseases h ave made remarkable progress in recent years. There are new therapies like gene therapy, cell therapy, small molecules, antibody therapy, protein replacement therapy, oligonucleotide therapy and so on.

• Breakthroughs in Drug Development
In rare disease, several new drugs are created every year around the world. In 2023, for instance, the U.S. Food and Drug Administration (FDA) approved 55 new drugs, about half of them for rare conditions. In 2024, the gene therapy Elevidys was approved for the treatment of Duchenne muscular dystrophy (DMD), which was a landmark for one of the rarer disorders. Other small molecules, antibodies and protein-replacement therapies are advancing as well.

• Improvements in Diagnostic Technology
New molecular diagnostic technologies promise the possibility of detecting and treating rare diseases earlier and more precisely. With the help of techniques like high-throughput sequencing (NGS), whole exome sequencing (WES) and whole genome sequencing (WGS), rare diseases can be uncovered molecularly.

How to Diagnose Rare Diseases?

Diagnosis of rare diseases is a complex and multi-step process that often requires a combination of technologies and approaches to achieve an accurate diagnosis. Below are some key steps and strategies for developing diagnostic reagents for rare diseases.

Karyotype Analysis

  • G-band Karyotyping
  • R-/ Q-/ T-band Karyotyping
  • Spectral Karyotyping
  • Digital Karyotyping
  • 1/29 Translocation Test

Biomarker Analysis

  • Nucleic Acids Biomarker
  • Proteins Biomarker
  • Lipids Biomarker
  • Metabolites Biomarker
  • Imaging Type Biomarker

Artificial Intelligence Analysis

  • Mutation Detection and/or Prediction
  • Disease Characterization
  • Biomarker Detection

Indication: The analysis provided by our company is for research only and cannot be used to diagnose patients.

What Can We Do for Rare Disease Drug Discovery & Development?

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