Alagille Syndrome (ALGS)
Alagille syndrome (ALGS) is a genetic disorder characterized by the involvement of various organs, including the liver, heart, and other body parts. Our company is dedicated to advancing state-of-the-art diagnostics and therapeutics for the effective management of Alagille syndrome. As your trusted partner in Alagille syndrome research, we provide integrated and comprehensive solutions tailored to meet all your scientific research needs.
Introduction to Alagille Syndrome
Alagille syndrome, also known as Alagille-Watson syndrome, is a rare genetic disorder that affects multiple organ systems, including the liver, heart, and other parts of the body. Alagille syndrome follows an autosomal dominant pattern of inheritance, and its estimated prevalence is approximately 1 in 30,000 cases.
Fig. 1 Notch signaling pathway. (Sanchez, Phillip, et al., 2021)Pathogenesis of Alagille Syndrome
The pathogenesis of Alagille syndrome primarily revolves around genetic mutations that disrupt the normal functioning of specific genes involved in the development of various organs.
JAG1 and NOTCH2 Gene
Alagille syndrome is primarily associated with mutations in the JAG1 gene. These mutations commonly involve intragenic mutations or deletions of the entire JAG1 gene. In rare instances, Alagille syndrome can also arise from missense mutations in the NOTCH2 gene.
Notch Signaling Pathway
JAG1 and NOTCH2 genes play critical roles in the Notch signaling pathway, which is involved in intercellular communication and embryonic development. Gene mutations disrupt the Notch signaling pathway, resulting in developmental abnormalities primarily affecting the formation of bile ducts, heart structures, spine, and facial features.
Types of Alagille Syndrome Therapy
Targeted Therapy
Researchers are investigating different compounds that target the Notch signaling pathway and bile acid metabolism. These therapies are designed to improve liver function, reduce cholestasis, and improve cardiac abnormalities. For example, γ-secretase inhibitors that modulate Notch receptor processing are under investigation.
Gene Therapy
Researchers are exploring gene editing technologies, such as CRISPR-Cas9, to correct the underlying genetic mutations responsible for Alagille syndrome. By precisely modifying the defective genes, gene therapy can potentially restore normal cellular function and alleviate the symptoms of Alagille syndrome.
Our Services
Our company leads the way in rare disease research and the development of therapeutics. With a team of experienced scientists and researchers, we have established the advanced platforms dedicated to unraveling the complexities of rare diseases, including Alagille syndrome.
Our research platforms
Our company is dedicated to offering diagnostic development services that facilitate early detection and precise diagnosis of Alagille syndrome. Recognizing the significance of animal models in therapeutic drug development, we specialize in constructing Alagille syndrome animal models using various species such as mice, pigs, zebrafish, and more. These models enable our customers to conduct drug safety evaluation and pharmacokinetics study on potential drug candidates.
Animal Models of Alagille Syndrome
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| Our company specializes in employing various genetic manipulation techniques, including gene knockouts and knock-ins, to introduce disease-causing mutations into animal models. To replicate the genetic abnormalities observed in individuals with Alagille syndrome (ALGS), our scientists perform gene knockout experiments in mice, effectively eliminating specific targeted genes. Furthermore, we utilize knock-in technology to insert specific mutations into the genomes of animal models, accurately reproducing the characteristics of human ALGS. | |||
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| Optional Species | Mice, Pigs, Zebrafish, Others | ||
Our services encompass a wide range of offerings beyond those mentioned, ensuring comprehensive support for Alagille syndrome research and therapeutics development. If you are interested in our services, please feel free to contact us for more details and quotation information for related services.
References
- Sanchez, Phillip, et al. "Therapeutics development for Alagille syndrome." Frontiers in Pharmacology 12 (2021): 704586.
- Andersson, Emma R., et al. "Mouse model of Alagille syndrome and mechanisms of Jagged1 missense mutations." Gastroenterology 154.4 (2018): 1080-1095.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.