Researchers Discover New Genes Behind Rare Childhood Diarrhea

New Delhi: In a groundbreaking study, researchers at The Hospital for Sick Children (SickKids), Canada, have identified three previously unknown genes associated with a rare and life-threatening childhood condition known as congenital diarrhea and enteropathies (CODE). The findings, recently published in the New England Journal of Medicine, mark a significant step toward earlier diagnoses and potential precision treatments for affected children.

The study involved genome sequencing of 129 infants suspected to have CODE, a group of inherited disorders that impair intestinal cell function, leading to chronic diarrhoea and severe nutrient absorption issues in newborns. If left undiagnosed, CODE can be fatal or cause long-term health complications due to malnutrition.

Using advanced computational biology tools and zebrafish models, the research team successfully identified the genetic basis of the condition in 62 infants—about 48 per cent of the cases studied. Notably, three novel genes—GRWD1, MYO1A, and MON1A—were discovered to be linked to the condition, expanding the known genetic landscape of CODE.

“Undiagnosed infantile diarrhoea can be fatal, but even when it isn’t, early diagnosis of rare conditions can help provide much-needed answers for families,” said Dr. Aleixo Muise, Senior Scientist and Staff Gastroenterologist at SickKids. “As a result of this study, we can now provide a diagnosis to more families and move closer to precision treatments tailored to their child’s specific genetic variant.”

Beyond the discovery of new genes, the team also found a new founder variant in the NEUROG3 gene in several infants. Understanding these genetic and functional mechanisms not only offers families clarity and relief but also opens the door for emerging targeted therapies. These may include specific dietary modifications, pharmacological interventions, or surgical options designed based on a child’s unique genetic profile.

The researchers emphasize that while current treatment for CODE is largely supportive, the identification of causative genes and pathways may accelerate the development of more effective, individualized therapies in the future.