Manipal, 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 study was co-authored by Dr. Purvi Majethia, Dr. Elizabeth Werren, and Dr. Guillermo Rodriguez Bey, alongside several other distinguished contributors from around the globe. 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", said Dr. Anju Shukla, the principal investigator from MAHE. "This success reflects the collaborative and innovative spirit of our institution and our commitment to providing a highly supportive research environment".

The journey of discovery began when Dr. Shukla and her team clinically evaluated the genomic data of a four-year-old boy who exhibited seizures, developmental delay, and hypotonia at the Department of Medical Genetics, Kasturba Medical College. The team's thorough genetic analysis revealed the EPB41L3 defect as a likely cause. By collaborating with international researchers, four additional families from France, Egypt, and Pakistan with similar symptoms were identified, further solidifying the gene’s link to this disorder.

Dr. Padmaraj Hegde, Dean of Kasturba Medical College, praised the team’s achievements and said, “this discovery is yet another testimony to MAHE’s dedication to cutting-edge genetic research and reflects our longstanding commitment to improving pediatric care. The ability to connect genetic findings across international borders showcases the importance of scientific collaboration”.

Dr. Sharath Rao, Pro Vice Chancellor (Health Sciences), MAHE, also commented on the breakthrough, “this discovery underscores the vital role of international partnerships in addressing the complex challenges of genetic diseases. It is a proud moment for MAHE and India’s growing role in global genomic research".

Speaking on the wider impact of this achievement, Lt. Gen. (Dr.) M.D. Venkatesh, VSM (Retd), Vice Chancellor of MAHE, Manipal, stated, "The publication of this groundbreaking work in Brain, a renowned journal, is an acknowledgement of the extraordinary work being done at MAHE. This global collaboration exemplifies how Indian research in medical genetics is making a significant contribution to solving global healthcare challenges".

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.