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.
April 03, 2025
Researchers find novel genes linked to rare childhood diarrhea
"Undiagnosed
infantile diarrhoea can be fatal" - Dr. Aleixo Muise, SickKids
Gastroenterologist
A
team of Canadian researchers has identified three novel genes linked to rare
childhood diarrhoea.
Key
Points
1 Genome
sequencing reveals three new CODE genes
2 Advanced
computational methods used in research
3 48%
of infant cases successfully diagnosed
4 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).
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