Cracking the Genetics of Rare Diseases through Crowdsourcing

Genomics England, as part of its 100,000 Genomes Project, is turning to crowdsourcing to help develop gene panels to diagnose some 130 rare diseases. PanelApp, as the tool has been dubbed, creates evidence-based gene panels for rare diseases that can be downloaded and viewed by anyone. By calling on rare disease experts from around the world to review the panels, Genomics England hopes to validate and standardize the genes used to diagnose specific rare diseases. We spoke to Ellen McDonagh, lead scientific curator at Genomics England about PanelApp, why the organization has decided to use this crowdsourcing approach, and what it ultimately hopes to accomplish.