Centre for DNA Fingerprinting and Diagnostics

Multicentre biobanking for rare diseases in India: Utility and challenges of lymphoblastoid cell line generation

Background and objectives For rare disease research, we aimed to establish immortalised lymphoblastoid cell lines (LCLs) from patient-derived blood samples. LCLs serve as a reliable substitute for accessing and studying the patient-specific disease biology, as patients may not al...

Refractory diabetic ketoacidosis in Rabson–Mendenhall syndrome due to a novel mutation: contrasting outcomes in a sibling – case series

Abstract Objectives Rabson–Mendenhall syndrome (RMS) is a rare monogenic insulin resistance disorder characterized by progressive dysglycemia and early mortality. Management of diabetic ketoacidosis (DKA) in RMS is particularly challenging because standard insulin doses may be in...