Epidermolysis Bullosa (EB)
Epidermolysis bullosa (EB) is a group of genetic disorders characterized by the formation of blistering lesions on the skin and mucous membranes. For advancing and accelerating EB research, specialized drug and therapy development services are essential. Our company is fully equipped to meet your needs in EB therapy development.
Introduction to Epidermolysis Bullosa
Epidermolysis Bullosa (EB) is a group of rare genetic disorders marked by fragile skin that easily blisters and tears in response to minor injury or friction. The global incidence of EB is about 1 in 50,000 live births. The types of EB are various, including EB simplex, dystrophic EB, junctional EB, and Kindler syndrome, each differing in severity and genetic cause.
Pathogenesis of Epidermolysis Bullosa
The pathogenesis of Epidermolysis Bullosa (EB) involves mutations in genes encoding proteins essential for the structural integrity of the cutaneous basement membrane zone. These mutations lead to defective proteins such as type VII collagen, type XVII collagen, and laminin-332, resulting in weakened dermal-epidermal cohesion. Consequently, minor trauma can cause skin blistering and erosions, characteristic of this disorder. The severity and specific manifestations of EB depend on the type and location of these genetic mutations.
Fig. 1 Complexity of the cutaneous basement membrane zone. (Has, C., et al., 2018)Diagnosis Development of Epidermolysis Bullosa
- Gene Sequencing: Next-Generation Sequencing (NGS) is a pivotal tool in diagnosing EB. It enables the detection of numerous mutations across 19 genes known to be associated with EB.
- Antigen Mapping: Immunofluorescence antigen mapping is used to locate specific proteins within the skin, helping to quickly identify the defective proteins responsible for EB.
Therapy Development of Epidermolysis Bullosa
Small molecule drugs aim to correct or alleviate the symptoms of EB at the molecular level. One promising strategy involves the use of read-through compounds that enable the translation of full-length functional proteins despite the presence of premature stop codon mutations.
Cell-based therapies offer a regenerative approach to treating EB. Allogeneic fibroblast therapy, where fibroblasts from healthy donors expressing type VII collagen are injected into individuals, has shown significant reduction in wound area and improved healing in RDEB individuals.
Gene therapy is one of the most advanced and promising approaches for EB therapy. Vyjuvek (beremagene geperpavec-svdt), a topical gene therapy using a herpes-simplex virus type 1 (HSV-1) vector, marks a significant milestone. It targets the COL7A1 gene mutations in DEB individuals, restoring the production of functional collagen VII.
Monoclonal antibody therapies for EB are still in the early stages but hold potential due to their specificity and targeted action. These antibodies can be designed to bind specific proteins involved in the disease process, potentially stabilizing these proteins or modulating immune responses to reduce inflammation and promote healing.
Our Services
Our company embraces a partnership-driven approach. We work closely with clients to develop customized, innovative Schnitzler Syndrome therapy strategies and provide strong support throughout the process.
Platforms of Epidermolysis Bullosa Therapy Development
Animal Models of Epidermolysis Bullosa
We possess established expertise in developing and using animal models that accurately replicate the disease characteristics and therapeutic responses. These models allow us to assess the safety and efficacy of potential therapies.
| Non-Genetically Engineering Models | ||
| We offer a variety of models tailored to specific research needs related to Epidermolysis Bullosa. These models enable researchers to simulate and investigate the complex biological processes involved in Epidermolysis Bullosa. | ||
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| Genetically Engineered Models | ||
| Our proficiency in genetic engineering techniques, including CRISPR/Cas9 technology, enables us to create precise and reliable models that replicate the genetic alterations seen in human Schnitzler Syndrome. | ||
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| Optional Species | Mice, Non-human primates, Rats, Others | |
Additionally, we can offer other comprehensive Animal models services that focus on specific signaling pathways and molecular targets.
If our services interest you, please contact us at your earliest convenience for more details.
References
- Has, C., et al., "Epidermolysis bullosa: Molecular pathology of connective tissue components in the cutaneous basement membrane zone." Matrix Biol, (2018). 71-72: p. 313-329.
- Ryumina, II, et al., "Pathogenetic Therapy of Epidermolysis Bullosa: Current State and Prospects." Bull Exp Biol Med, (2021). 171(1): p. 109-121.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.