New Delhi, April 3
A team of Canadian researchers has identified three novel genes linked to rare childhood diarrhoea.
The rare condition called CODE (congenital diarrhoea and enteropathies) disrupts the function of cells in the intestine, causing diarrhoea. It also prevents infants from absorbing the nutrients they need to grow and thrive.
The team from The Hospital for Sick Children (SickKids) conducted genome sequencing on 129 infants with suspected CODE.
The scientists characterised the function of novel CODE genes using advanced computational methods and zebrafish models
The analysis was remarkably successful, providing a diagnosis for 48 per cent of cases.
The findings, published in the New England Journal of Medicine, found three new genes associated with CODE -- GRWD1, MYO1A , and MON1A -- and provided answers to 62 families.
“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, Staff Gastroenterologist and Senior Scientist in the Cell and Systems Biology programme at SickKids.