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Identification of the Most Common Gene for Bardet-Biedl Syndrome

Unmet NeedCurrently nine BBS(1-9) genes have been discovered and they account for only 40-50% of all mutations that result in BBS. This technology comprises of BBS10, a novel BBS gene whose mutational involvement in the disease makes it an attractive diagnostic and therapeutic target. Other advantages include: Diagnostic test applications in pre-natal...

Published: 3/13/2025 | Inventor(s): Helene Dollfus, Richard Lewis, Philip Beals, Jean-Louis Mandel, Corinne Stoetzel, Nicholas Katsanis, Erica Davis

Keywords(s): Bardet-Biedl Syndrome, Bardet-Biedl syndrome (BBS), Biomarker, Clinical Diagnostics, Diagnostic Biomarker, Disease Indication, Genetic Disorders, In Vitro Diagnostics, Therapeutic Matter, Therapeutics

Category(s): Clinical and Disease Specializations, Clinical and Disease Specializations > Rare Diseases, Technology Classifications > Diagnostics > Biomarkers, Technology Classifications > Diagnostics > Diagnostic Biomarkers, Technology Classifications > Diagnostics > In Vitro Diagnostics, Technology Classifications > Therapeutic Modalities > Targets, Technology Classifications > Diagnostics, Clinical and Disease Specializations > Genetic Diseases, Technology Classifications > Therapeutic Modalities, Clinical and Disease Specializations > Genetic Diseases > Bardet-Biedl Syndrome