DBT Success Stories 2025 | In Spotlight Advancing precision diagnostics for rare genetic disorders 🧬 Researchers at @BRIC_CDFD are integrating genomics, biochemistry, cell-based systems, and mouse models to uncover novel gene–disease associations and interpret variants of uncertain significance in monogenic disorders. The team identified a biologically significant nonsense variant in the novel gene Serpin A11, linked to a perinatal lethal serpinopathy, and is investigating its role in early fetal development. They are also developing a cell-based colorimetric assay for Glycogen Storage Disorder Type 1A (G6PC1 deficiency), reducing reliance on invasive liver biopsies. Through these efforts, BRIC–CDFD is strengthening rare disease diagnostics and enabling informed genetic counselling. 🧬 Research insights shared by Dr. Rashna Bhandari, Staff Scientist, BRIC–CDFD 🔬 Contributions by Shrutika Padwal, PhD Scholar, and Yodhaanjali, Project Associate #DBTSuccessStories #RareGeneticDisorders #PrecisionMedicine @DrJitendraSingh @rajesh_gokhale @BricDbt @NABI_India @bric_ils @NIPGRsocial @NImmunology @FollowDbtNibmg @HydNiab @BRIC_CDFD @DBT_NCCS_Pune @ICGEB @DBT_inStem @RGCB_Trivandrum @THSTIFaridabad @ICGEBNewDelhi @unescorcb @BIRAC_2012