Scientific Partnership Between MAHE and Eminent US Universities Leads to the Discovery of a New Genetic Brain Disorder
27 September 2024: In a significant scientific breakthrough, a collaborative research team led by Dr. Anju Shukla from Kasturba Medical College, Manipal Academy of Higher Education (MAHE), Dr. Stephanie Bielas from the University of Michigan, USA, and Dr. Quasar Padiath from the University of Pittsburgh, USA, has identified a new genetic disorder linked to a defect in the EPB41L3 gene. This novel discovery, detailed in the prestigious journal Brain, sheds light on a disorder that causes seizures, developmental delay, decreased muscle tone, and defects in myelination—a process vital for the protection and insulation of nerves in the brain.
The research emphasises the critical role that global collaboration plays in advancing genetic science, particularly in rare disorders.
'This is the first time that alterations in the EPB41L3 gene have been linked to a brain disorder. Discovering a new gene associated with a condition is an exhilarating achievement for any research team. It’s a major milestone for myelin disorder research and will provide much-needed answers to families who have long sought diagnoses'
This discovery is not only a breakthrough in understanding brain disorders but also highlights the rising influence of Indian researchers in the global genomics field. The identification of EPB41L3 as a causative gene for developmental disorders demonstrates how international collaboration is vital to unlocking the mysteries of rare genetic diseases and improving patient outcomes worldwide.