Ehlers-Danlos Syndrome (EDS)
Ehlers-Danlos syndrome (EDS) is a group of genetic connective tissue disorders. Among the commonly recognized forms of EDS are hypermobile EDS, classical EDS, vascular EDS, and kyphoscoliotic EDS, each with its distinct genetic basis and manifestations. Our company is at the forefront of the development of accurate diagnostic and therapeutic of rare diseases and can provide a one-stop service for your research.
Overview of EDS
EDS is classified as a heritable connective tissue disorder (HCTD), characterized by the body's impaired ability to produce collagen – the essential protein responsible for imparting structural integrity to the skin, joints, blood vessels, and other tissues. With a prevalence between 1 in every 5000 to 250,000 individuals, EDS manifests in various forms, each distinct in its genetic underpinnings and presentations. The wide spectrum of symptoms associated with EDS includes skin hyperextensibility, tissue fragility, chronic pain, and in severe cases, vascular complications.
Fig.1 Features of spinal disorders in individuals with musculocontractural EDS. (Uehara, M., et al., 2023)Pathogenesis of EDS
The pathogenesis of EDS involves a defect in the production, processing, or structure of collagen, leading to weakened connective tissues and a range of symptoms. The complexity of EDS lies in its genetic heterogeneity, with different subtypes attributed to mutations in specific genes involved in collagen synthesis. The current EDS classification distinguishes 13 subtypes and 19 different pathogenic genes, which are mainly involved in the synthesis and maintenance of collagen and extracellular matrix.
Fig. 2 Overview of collagen and glycosaminoglycan biosynthesis and collagen fibrillogenesis. (Vroman, R., et al., 2021)Diagnostics Development of EDS
The diagnostic development of EDS often involves genetic testing, utilizing advanced technologies such as Next-generation sequencing (NGS) to pinpoint the underlying genetic alterations associated with the disorder. The identification of these mutations not only aids in confirming the diagnosis but also paves the way for personalized therapeutics strategies tailored to individual EDS subtypes.
Therapeutics of EDS
Drugs such as non-steroidal anti-inflammatory drugs, analgesics, and opioids play a crucial role in alleviating the pain and discomfort experienced by individuals with EDS, helping improve their overall well-being and functionality.
The use of angiotensin receptor blockers, β-adrenergic blockers, and diuretics helps in reducing the likelihood of vascular complications, offering an approach to managing the specific challenges associated with vascular EDS.
Our Services
Our company has a professional team and advanced technology that can provide you animal models and therapeutic development platform to help you further study the pathogenesis of EDS and help develop new therapeutic interventions.
Platforms of EDS Therapy Development
Animal Models of EDS
In the pursuit of unraveling the intricate pathogenesis of EDS, animal models have emerged as indispensable tools for researchers. Our company can provide a variety of EDS animal models to support you in understanding the underlying mechanisms of EDS, testing potential therapies, and exploring the pathogenesis of different EDS subtypes.
| Chemical-induced Models | ||
| Exposure to chemical compounds like β-aminopropionitrile (BAPN) in animal models can induce features similar to EDS, including skin fragility, joint laxity, and vascular fragility. | ||
| Optional Models |
|
|
| Genetically Engineered Models | ||
| Genetically engineered to mirror the genetic mutations observed in human EDS individuals, such as Col5a1, Col1a1, and Col3a1. These animals exhibit similar symptoms to humans with EDS, such as joint hypermobility and skin fragility. | ||
| Optional Models |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
||
| Optional Species | Mice, Rats, Zebrafish, Non-Human Primates, Others | |
We bring together the world's leading talent and technology to provide you with comprehensive services in the field of rare disease research, including pharmacokinetics analysis and biosafety evaluation. For more information about our services and how we can partner in your research endeavors, feel free to connect with us.
References
- Islam, Mareesa et al. "Ehlers-Danlos Syndrome: Immunologic contrasts and connective tissue comparisons." Journal of translational autoimmunity 4 (2020): 100077.
- Uehara, Masashi et al. "Spinal Deformity in Ehlers-Danlos Syndrome: Focus on Musculocontractural Type." Genes 14.6 (2023): 1173.
- Vroman, Robin et al. "Animal Models of Ehlers-Danlos Syndromes: Phenotype, Pathogenesis, and Translational Potential." Frontiers in genetics 12 (2021): 726474.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.