Spondyloepiphyseal Dysplasia Congenita (SEDC)
Spondyloepiphyseal dysplasia congenita (SEDC) is a rare genetic disorder that primarily affects the spinal epiphysis and the end of long bones. Our company offers robust research infrastructure and specialized services in advancing your understanding and therapeutic progression for SEDC.
Overview of SEDC
SEDC is a rare disorder with a prevalence of 3.4 per 1,000,000 individuals. This condition primarily affects the growth and development of bones, particularly the spine and long bones, resulting in distinctive skeletal abnormalities such as short stature, abnormal spinal curvature (kyphoscoliosis), flattened vertebrae, and enlarged end parts of long bones known as epiphyses.
Fig.1 Imaging examination findings of SEDC individuals. (Zhou, T., et al., 2021)Pathogenesis of SEDC
The underlying cause of SEDC lies in mutations of the COL2A1 gene, which encodes type II collagen – a crucial protein essential for the structural integrity of cartilage and bone tissues. Mutations in the COL2A1 gene disrupt the normal synthesis and function of type II collagen, resulting in skeletal deformities and abnormalities observed in individuals with SEDC.
Diagnostics Development of SEDC
SEDC is a disease caused by abnormal synthesis of type II collagen caused by COL2A1 gene mutation. The diagnosis of SEDC should be based on histopathological diagnosis. At present, multiple gene mutation sites of SEDC have been found, which can be used to predict and guide the therapy of SEDC.
Therapeutics of SEDC
Due to the molecular nature of SEDC, gene therapy holds promise as a potential therapy strategy for SEDC.
Gene Editing
Antisense Oligonucleotide Therapy
RNAi Therapy
Our Services
By providing a range of services designed to support research endeavors and drive exploration of disease mechanisms, our company stands at the forefront of rare disease research, providing you with animal models and therapeutic development platforms for a deeper understanding and effective therapeutics for SEDC.
Platforms of SEDC Therapy Development
Animal Models of SEDC
The animal models not only aid in understanding disease pathogenesis but also serve as valuable tools for evaluating potential therapeutic interventions. Our company can provide a variety of transgenic and gene-edited animal models to support your research of SEDC.
| Genetically Engineered Models | ||
| The use of transgenic or gene editing techniques CRISPR/Cas9 leads to mutations in collagen-related genes (such as COL2A1) in animals to simulate some aspects of skeletal dysplasia in SEDC. These models offer a platform for studying the consequences of gene mutations and testing novel therapy strategies. | ||
| Optional Models |
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| Optional Species | Mice, Rats, Zebrafish, Non-Human Primates, Others | |
Our company supports your research with innovative ideas and advanced technologies for all aspects of SEDC research, such as pharmacokinetics studies and biosafety evaluation services. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
References
- Zhou, Tangjun et al. "A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family." Journal of clinical laboratory analysis 35.4 (2021): e23728.
- Nenna, Raffaella et al. "COL2A1 Gene Mutations: Mechanisms of Spondyloepiphyseal Dysplasia Congenita." The application of clinical genetics 12 (2019): 235-238.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.