Researchers find novel genes linked to rare childhood diarrhoea

IANS April 3, 2025 201 views

A groundbreaking Canadian research team has uncovered three novel genes responsible for a rare childhood condition called CODE. By conducting genome sequencing on 129 infants, the scientists successfully diagnosed 48% of cases and identified new genetic pathways. Their research, published in the New England Journal of Medicine, offers hope for families struggling with this challenging condition. The findings could potentially lead to more precise, personalized treatments for affected children.

"Undiagnosed infantile diarrhoea can be fatal" - Dr. Aleixo Muise, SickKids Gastroenterologist
New Delhi, April 3: A team of Canadian researchers has identified three novel genes linked to rare childhood diarrhoea.

Key Points

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Genome sequencing reveals three new CODE genes

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Advanced computational methods used in research

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48% of infant cases successfully diagnosed

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Potential for targeted genetic treatments

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.

“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,” Muise added.

ODEs are associated with high morbidity and mortality. Although the treatment of these disorders is largely supportive, emerging targeted therapies based on genetic diagnoses include specific diets, pharmacologic treatments, and surgical interventions.

A genetic diagnosis alone can provide relief to many families, said the team.

They noted that understanding the genetic and functional underpinnings of the conditions, including three new pathways, can also move scientists closer to targeted treatments.

In addition to the genes, in the case series of 129 infants with suspected congenital diarrhoeal disorders, the team identified causal variants, including a new founder NEUROG3 variant, in 62 infants (48 per cent).

Reader Comments

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Sarah K.
This is incredible progress! As a mom, I can't imagine how scary it must be for families dealing with undiagnosed conditions. So glad researchers are making breakthroughs like this. 👏
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James P.
Interesting study but I wish they'd included more details about the zebrafish models. How exactly did they use them to test these gene functions? The methodology seems a bit glossed over.
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Maria L.
My cousin's baby had CODE and it was heartbreaking watching them go through all the tests without answers. Research like this gives me hope for other families going through similar struggles.
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David T.
The 48% diagnosis rate is impressive, but that still leaves over half without answers. Hope they continue this important work to help even more families. Science takes time but every step counts!
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Aisha R.
As a pediatric nurse, I've seen firsthand how devastating these conditions can be. Genetic research is changing medicine so fast - this gives me chills (the good kind)! ❤️
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Tom W.
While this is promising, I wonder about accessibility. Will families in developing countries be able to benefit from these findings? Genetic testing can be prohibitively expensive.

We welcome thoughtful discussions from our readers. Please keep comments respectful and on-topic.

Tags:
Childhood Diarrhoea Genetic Research SickKids Dr. Aleixo Muise Rare Disease Genetic Diagnosis
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