The Global Angelman Syndrome Registry: A Groundbreaking Tool for the Community

Quick Overview

The Global Angelman Syndrome Registry is a groundbreaking initiative that collects data about individuals with Angelman Syndrome from around the world. The registry aims to improve diagnosis, inform better services, and drive research for therapeutic outcomes. It is a large online questionnaire that collects information on various aspects of Angelman Syndrome. The data is kept confidential and secure, with strict ethics approval and governance. Participating in the registry allows individuals to be contacted for research and clinical trials. The registry also provides limited and de-identified data for parents to access and run queries. The goal is to reach 1,000 participants by the end of the year. Interested individuals can sign up on the registry’s website.

Introduction

In this talk, we will discuss the Global Angelman Syndrome Registry, a groundbreaking initiative that aims to collect data and information about individuals with Angelman Syndrome. The registry has been established by FAST Australia, with the support of FAST America US, and has already made significant progress in its first year. We will provide an overview of the registry, its purpose, and how individuals can get involved.

Meet the Board Members

The Global Angelman Syndrome Registry is the brainchild of Meagan Cross and Chloe Simons, both board members of FAST Australia. Meagan, a mother of a child with Angelman Syndrome, has played a crucial role in establishing the registry and is actively involved in data collection and website operations. Chloe, on the other hand, is the Chief Science Officer of FAST Australia and is responsible for funding and scientific research. Together, they will guide us through the registry and explain how individuals can participate.

The Importance of Data Collection

Data collection is crucial for faster and accurate diagnosis, improved services, and informed decision-making for individuals with Angelman Syndrome. The registry serves as a tool to gather comprehensive information about people with Angelman Syndrome, which can help identify similarities and clinical characteristics. This data is also essential for driving and accelerating research, recruiting participants for clinical trials and studies, and informing the development of therapeutic interventions.

Participating in the Registry

Participating in the Global Angelman Syndrome Registry is simple and voluntary. The registry is an online questionnaire that collects information about individuals with Angelman Syndrome. The questionnaire covers various aspects such as seizures, behavior, sleep, and medications. Participants can access the registry through the website angelmanregistry.info.

Data Security and Confidentiality

The registry ensures the utmost security and confidentiality of participants’ information. All data is encrypted and hosted on a secure server at the Centre for Comparative Genomics at Murdoch University in Western Australia. Personal details are de-identified and replaced with an identification number to protect privacy. Only authorized individuals, after obtaining consent from the governance board, can access the data for research purposes. The governance board consists of representatives from families, patient organizations, and medical professionals, ensuring ethical use of the data.

Harnessing the Power of Data

The registry aims to harness the power of data by allowing researchers and scientists to access and contribute to the registry. By consolidating data from various studies and trials, the registry becomes a valuable resource for researchers, enabling them to analyze and utilize the information effectively. Additionally, the registry provides a platform for participants to run queries and gain insights from the collective data, empowering them with knowledge and information.

Joining the Registry

Joining the Global Angelman Syndrome Registry is a significant step towards advancing research and improving outcomes for individuals with Angelman Syndrome. To sign up, individuals can visit the registry website and complete the registration process. The registration involves providing personal and Angelman Syndrome-related information. Once registered, participants may be contacted for research opportunities and clinical trials.

Conclusion

The Global Angelman Syndrome Registry is a groundbreaking initiative that aims to collect comprehensive data about individuals with Angelman Syndrome. By participating in the registry, individuals can contribute to research, drive therapeutic outcomes, and benefit from the collective knowledge and insights gained from the data. Joining the registry is voluntary and ensures the utmost security and confidentiality of participants’ information. Together, we can make a difference in the lives of individuals with Angelman Syndrome.