Behavioral differences seen in AS

Quick Overview

Behavioral differences in Angelman Syndrome (AS) are being studied, along with the development of new outcome measures for clinical trials. Synaptic function in the AS mouse model is also being investigated. The researchers are working on developing objective and quantitative outcome measures to assess the effectiveness of potential therapeutics. They are looking at measures of verbal communication, gait analysis, and overall synaptic function. The researchers have also developed an assay to measure UBE3A enzymatic activity, which could be useful in evaluating gene therapy or protein replacement therapy.

Overview of the FIRE initiative

The author begins by discussing the FIRE initiative, which aims to bring together researchers to work collaboratively on Angelman Syndrome (AS). The author highlights the importance of regular communication and close ties between researchers to accelerate scientific progress.

New potential outcome measures in AS

The author emphasizes the need for clear and objective outcome measures in AS clinical trials. They discuss the limitations of current measures, such as the Baileys and Vineland scales, and the importance of developing new measures that are less subjective and more quantitative. The author presents the use of the LENA system to measure verbal communication in AS children, as well as the quantification of gestures. They also discuss the use of gait analysis to assess motor coordination and the development of a gait score. These new outcome measures aim to provide more accurate and reliable data for evaluating the effectiveness of therapeutic interventions.

Synaptic function in the AS model

The author explores the role of synaptic function in AS and its impact on learning and memory. They discuss the findings of their research on synaptic plasticity and the communication between neurons in AS mouse models. The author suggests that the overall reduction in synaptic connectivity may underlie the various symptoms observed in AS, such as changes in sleep, hunger, and seizure susceptibility. They propose the concept of a global therapeutic approach to target synaptic connections throughout the brain.

Enzymatic activity of UBE3A

The author presents their work on measuring the enzymatic activity of UBE3A, a protein involved in AS. They discuss the importance of assessing the activity of UBE3A in potential therapeutic interventions, such as gene therapy or protein replacement therapy. The author highlights the significance of not only the expression but also the activity of UBE3A in determining its effectiveness.

Conclusion

The author concludes by acknowledging the contributions of their team members and expressing their willingness to answer any questions. They highlight the importance of ongoing research and collaboration in advancing our understanding and treatment of AS.