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Rhythm Pharmaceuticals Announces Publication of New Bardet-Biedl Syndrome Diagnostic Algorithm in the American Journal of Medical Genetics
Rhythm Pharmaceuticals Announces Publication of New Bardet-Biedl Syndrome Diagnostic Algorithm in the American Journal of Medical
About this update from Rhythm Pharmaceuticals, Inc.
[{"type":"text","content":"BOSTON, May 28, 2026 (GLOBE NEWSWIRE) -- Rhythm Pharmaceuticals, Inc. (Nasdaq: RYTM), a global commercial-stage biopharmaceutical company focused on transforming the lives of patients living with rare neuroendocrine diseases, today announced the publication of a new, evidence-based consensus-driven diagnostic algorithm for Bardet-Biedl syndrome (BBS). “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 ...