"Streamlining Diagnosis of Bardet-Biedl Syndrome: New Diagnostic Algorithm with Updated Criteria," was published in the peer-reviewed American Journal of Medical Genetics.

This simplified and practical diagnostic algorithm for healthcare practitioners is designed to reduce time to an informed diagnosis of BBS. A multidisciplinary group of international experts and patient advocacy organizations came together for this effort, reaffirming that BBS diagnosis can be made clinically, and providing guidance on how genetic testing can help with earlier diagnosis when all clinical criteria are not yet met. Building on the original Beales' Criteria published in 1999, these updates integrate advances in understanding BBS, including its multisystem manifestations and broader clinical presentation, as well as progress in genetic testing.

"The original diagnostic criteria were pivotal in defining Bardet-Biedl syndrome over two decades ago; however, advances in our understanding of this disease now support a more practical and integrated approach," said Professor Philip Beales, Emeritus Professor of Molecular Genetics and Genomic Medicine at University College London, primary author on the original Beales' Criteria and senior author on this new publication. "This algorithm offers clearer guidance to support earlier diagnosis, which is essential for timely management and care."

BBS is often difficult to recognize due to its variable and progressive presentation, as well as its multi-organ involvement. These factors may contribute to significant delays in diagnosis. The new algorithm provides diagnostic pathways applicable across all age groups and across a range of clinical presentations. It also outlines organ-specific manifestations based on prevalence data from multiple sources, enabling multidisciplinary specialists to more easily diagnose BBS.

"Early and accurate BBS diagnosis can make an enormous difference for affected families," said Tim Ogden, Executive Director of the Bardet Biedl Syndrome Foundation and author on this publication. "I know from personal experience that diagnosis opens the door to appropriate clinical care and support services, and better outcomes are possible the earlier that happens. Even in 2026, too many families spend years searching for answers before they get an accurate diagnosis."

Next month, Brooke Sweeney, MD, Professor of Internal Medicine/Pediatrics and Medical Director of Weight Management at Children's Mercy Kansas City and an author on this new publication, will present the updated BBS diagnostic algorithm during Rhythm's inaugural MOMENTUM MC4R Pathway Summit on Friday, June 12 in Chicago, ahead of The Endocrine Society's Annual Meeting (ENDO). For more information on MOMENTUM, please email: [email protected].

Writing and editorial assistance for "Streamlining Diagnosis of Bardet-Biedl Syndrome: New Diagnostic Algorithm with Updated Criteria," was provided under the direction of the authors and funded by Rhythm Pharmaceuticals, Inc.