Ehlers-Danlos syndrome (EDS) is a group of serious genetic disorders. With our profound expertise in EDS diagnostic research, we are well-equipped to deliver tailor-made solutions and comprehensive support to facilitate your journey from EDS diagnostic research to commercialization.
Overview of Ehlers-Danlos Syndrome
Ehlers-Danlos syndrome (EDS) encompasses a group of genetic disorders affecting connective tissues, leading to a spectrum of symptoms from joint hypermobility to life-threatening complications. This condition affects various organs and tissues, impacting the skin, bones, blood vessels, and more. EDS is divided into different types, and it is estimated that the prevalence of all types of EDS is at least 1 in 5,000 people worldwide. The most common of these are the hypermobile type (1/5000-20000) and the classic type (1/20000-40000).
Fig. 1 Disease mechanism of Ehlers-Danlos syndrome (EDS). (Vroman R, et al., 2021)
Pathogenesis of Ehlers-Danlos Syndrome
The pathogenesis of Ehlers-Danlos syndrome (EDS) lies in genetic mutations affecting collagen production or processing. Gene mutations disrupt the normal assembly and function of collagen molecules, thereby weakening connective tissue and causing symptoms associated with EDS. Some genes associated with EDS are shown below.
Diagnostic Development for Ehlers-Danlos Syndrome
The development of diagnostic tools for Ehlers-Danlos syndrome (EDS) presents several challenges due to the genetic heterogeneity of EDS, the need for accurate phenotypic characterization, and the rarity of certain EDS subtypes. Currently, there is no specific diagnostic kit on the market for diagnosing EDS, which is an unmet need in EDS diagnosis. Developing IVD test kits for EDS can be approached from the following two aspects:
Genetic Testing
Specific gene mutations related to EDS subtypes can be detected using molecular detection methods such as PCR, MLPA, or next-generation sequencing (NGS) technology.
Biochemical Testing
Biochemical testing may be done on a skin biopsy sample to evaluate the structure and function of collagen. In some subtypes of EDS, abnormal enzyme activity testing may also provide clues to the diagnosis.
Our Services
There exist numerous gaps in in vitro diagnostics (IVD) for Ehlers-Danlos syndrome (EDS). Our company leads the way in the development of genetic disease diagnostics, offering comprehensive IVD solutions for genetic conditions like EDS. Our scientists conduct in-depth research on the pathogenesis of EDS and related metabolic pathways to develop accurate and reliable gene detection kits and metabolite detection kits. In conjunction with diagnostic equipment, efficient and automated diagnosis of EDS can be achieved to promote effective EDS management.
Optional Test Genes
- COL5A1
- COL5A2
- COL3A1
- PLOD1
- COL1A1
- COL1A2
- ADAMTS2
- ZNF469
- PRDM5
- B4GALT7
- B3GALT6
- CHST14
- FLNA
- C1R
- TNXB
- PLOD1
- FKBP14
- And More
In order to accelerate timely diagnosis and personalized treatment for EDS, we offer point-of-care testing and companion diagnostic development services. These services are pivotal in improving the effectiveness and precision of EDS diagnostics, enabling individualized care approaches for patients.
If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
References
- Vroman R, Malfait A M, Miller R E, et al. Animal models of Ehlers–Danlos syndromes: phenotype, pathogenesis, and translational potential[J]. Frontiers in genetics, 2021, 12: 726474.
- Joseph A W, Joseph S S, Francomano C A, et al. Characteristics, diagnosis, and management of Ehlers-Danlos syndromes: a review[J]. JAMA Facial Plastic Surgery, 2018, 20(1): 70-75.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
