The Creation of a Robust Infrastructure Including Molecular, Neurobehavior, and Biomarker Testing for Pre-Clinical Drug Evaluation in Angelman Syndrome

Quick Overview

This summary discusses the creation of a robust infrastructure for pre-clinical drug evaluation in Angelman Syndrome. The project aims to identify drugs that could be useful for Angelman Syndrome and develop therapies to test their efficacy. The focus is on molecular therapies that reactivate UBE3A, the gene associated with Angelman Syndrome. Additionally, the project explores other potential drug targets and uses cell-based assays to screen for new drugs. The infrastructure program involves collaboration between multiple labs and aims to accelerate drug development for Angelman Syndrome.

Introduction

In the field of Angelman syndrome research, there is a need to identify potential drugs and therapies that can effectively treat the disorder. This talk discusses the creation of a robust infrastructure that aims to address this need by focusing on molecular, neurobehavioral, and biomarker testing for pre-clinical drug evaluation.

Molecular Therapies for Angelman Syndrome

Molecular therapies, such as gene therapy and gene editing, have shown promise in the treatment of Angelman syndrome. These therapies target specific genes, such as UBE3A, which is known to be associated with the disorder. The talk highlights the use of artificial transcription factors, gene therapy, antisense oligonucleotides, and CRISPR proteins as examples of molecular therapies being explored in the field.

Beyond UBE3A Reactivation

While reactivating UBE3A in the brain is a common goal of many molecular therapies, there is a need to explore other approaches as well. The talk suggests that understanding the functions of UBE3A and its impact on different processes in the brain could lead to the identification of other druggable targets. By targeting these downstream processes, it may be possible to augment the effects of UBE3A reactivation or find alternative treatments for Angelman syndrome.

Finding Potential Drugs for Angelman Syndrome

The talk discusses the importance of finding drugs that could be beneficial for Angelman syndrome, either as standalone treatments or in combination with molecular therapies. It highlights the role of companies like Ovid in developing potential drugs and bringing them to the community for further evaluation. Additionally, the talk emphasizes the need to identify drugs that are already approved by the FDA and could be repurposed for the treatment of Angelman syndrome.

Cell-Based Assays for Drug Screening

To identify potential drugs for Angelman syndrome, the talk describes the use of cell-based assays. These assays allow researchers to screen large libraries of compounds and evaluate their effects on neuronal cells. Examples of assays mentioned include neuronal morphology analysis, oxidative stress assessment, and biomarker expression profiling. By using these assays, researchers can identify drugs that show promise in improving cellular function and potentially translate them into effective treatments for Angelman syndrome.

Collaboration and Future Directions

The talk emphasizes the collaborative nature of the research being conducted at UC Davis. The labs of Kyle Fink, David Segal, and Jill Silverman work closely together to coordinate activities and advance the development of drugs and therapies for Angelman syndrome. The talk concludes by highlighting the ongoing efforts to expand the infrastructure and accelerate the drug development process.

Conclusion

The creation of a robust infrastructure for pre-clinical drug evaluation in Angelman syndrome is crucial for identifying potential treatments and advancing the field of research. By focusing on molecular, neurobehavioral, and biomarker testing, researchers aim to develop effective drugs and therapies that can improve the lives of individuals with Angelman syndrome. Collaboration and the use of cell-based assays are key components of this infrastructure, enabling the screening and evaluation of potential drugs.