Angelman Syndrome Drug Discovery Service

Creative Biolabs offers a full suite of products and services to help pharmaceutical and biotech companies accelerate their preclinical discovery and development. Based on our advanced platforms and extensive experience, now we provide one-stop research services against Angelman syndrome for our clients all over the world.

Introduction to Angelman Syndrome

Angelman syndrome, also known as Angelman's syndrome, is a genetic disorder that affects the nervous system. Located within a region of chromosome 15, the UBE3A gene is part of the ubiquitin pathway and dysfunction of this gene leads to two severe human neurodevelopmental disorders (NDDs). The deletion and dysfunction of the maternal UBE3A allele would result in Angelman syndrome. The pathophysiology of UBE3A and the disease is unclear, but the loss of UBE3A protein in the brain causes severe neurological and cognitive deficits. Developmental delay, speech impairment, and motor or balance disturbances are consistent features of Angelman syndrome, and these clinical features vary with age. According to statistics, Angelman syndrome affects 1 in 12,000 to 20,000 people, and the probability of being affected is independent of gender.

Fig.1 Mouse models of AS. A schematic representation of human chromosome 15q11.2-q13 region. (Rotaru, 2020)

Animal Models of Angelman Syndrome

To develop effective targeted therapies and ensure successful clinical translation, we have constructed mouse models with similar genotypic levels and similar phenotypic levels. Using our mouse model of Angelman syndrome not only identifies drug targets but also provides important information about the optimal age for treatment and therapeutic doses. Areas of application of mouse models in elucidating the pathophysiology of Angelman syndrome include:

• Deletion of UBE3A affects multiple pathways.
• Methods and limitations of UBE3A gene reactivation.
• Identifying potential brain regions associated with the UBE3A gene.
• Determining the amount of UBE3A protein required to maintain normal development and brain function.
• Determine the role of all genes that are part of the large deletion in the majority of Angelman syndrome patients.

Therapeutic Approaches of Angelman Syndrome

Currently, there are no effective or curative treatments for patients with Angelman syndrome. Patients with the disease tend to live near-average lifespans, and existing strategies focus on managing medical, sleep, and developmental problems. More recently, there is a promising therapy against Angelman syndrome that restores the expression level of the UBE3A protein by reactivating the UBE3A gene.

Services for Angelman Syndrome

• In Vitro Services
• In Vivo Services
• Ex Vivo Services
• Discovery Services
• Development Services

Angelman Syndrome Drug Discovery Service

Equipped with world-leading platforms and extensive experience, Creative Biolabs provides one-stop drug discovery service for our clients. From the basic target identification to the final IND-enabling, we can meet all the needs of customers.

Creative Biolabs is a leading service provider that focuses on neuroscience research. We assist you in designing the best research outline customized to meet the requirements of clients' programs. If you are interested in our services and products, please do not hesitate to contact us for more details.

Reference

1. Rotaru, D.C.; et al. Angelman syndrome: from mouse models to therapy. Neuroscience. 2020, 445: 172-189.