Dear colleagues,
we are pleased to share with you the release of the inter-ERN Consensus Statement on Bardet-Biedl Syndrome in the European Journal of Human Genetics.
Four European Reference Networks (ERN-EYE, ERKNet, Endo-ERN, ERN-ITHACA) have collaborated to develop new consensus statements and recommendations for Bardet-Biedl Syndrome (BBS), a complex genetic disorder with 26 identified genes. The consensus statement revises diagnostic criteria, emphasizing the importance of early diagnosis, continuous monitoring, and specialized care across various medical fields. It also highlights the need for comprehensive management of symptoms, including developmental anomalies, retinal degeneration, obesity, and kidney issues, with the goal of improving patient outcomes and preparing for future therapeutic advances.
This collaborative effort sets a new standard for BBS care across Europe, thanks to the dedicated work of the participating networks and authors.
Your ERKNet Team
