MUTATION ANALYSIS IN BARDET-BIEDL SYNDROME PATIENTS IN PAKISTAN: A REVIEW

Abstract

This study explores Bardet-Biedl Syndrome (BBS), a complex illness characterized by diversity in clinical manifestations and involvement of multiple organs. It draws attention to the genetic complexity of BBS and emphasizes the need for an all-encompassing approach to patient management. Future therapeutic approaches may be possible thanks to recent discoveries about the roles of the BBS protein. The research highlights the significance of genetic screening and counseling, especially in communities such as Pakistan where consanguineous marriages are common. It also includes an investigation of Pakistani population-specific BBS mutations. Ultimately, it seeks to raise awareness, encourage more study, and develop better diagnostic and treatment plans for people with BBS.