The Benefits of an Open-Source Registry for Rare Diseases

The Foundation for Angelman Syndrome Therapeutics Australia says it has created a Global Angelman Syndrome Registry that gives parents and caregivers the power to drive the collection of data. Its goal is to make the registry the largest collection of information about the neurological disorder to date and use it to inform the research for new therapies by providing insights into the developmental progress, medication, and seizure management related to the condition. One unique aspect of the registry is that it uses an open-source framework developed by Centre for Comparative Genomics at Murdoch University in Perth, Australia. We spoke to Meagan Cross, chairperson of the Foundation for Angelman Syndrome Therapeutics Australia, about Angelman syndrome, the efforts to build the registry, and why the use of an open-source platform can help address barriers rare disease organization face in creating registries.