Stories about: Amy O’Connell

A perfect genetic hit: New gene mutation implicated in rare congenital diarrhea

Normal intestinal organoids (left) in contrast to intestinal organoids derived from patients (right) with a newly-discovered gene mutation linked to congenital diarrhea.
Normal intestinal organoids (left) in contrast to intestinal organoids derived from patients (right) with a newly-discovered gene mutation linked to congenital diarrhea.

When the 1-year-old boy arrived from overseas, he was relying on total parenteral nutrition — a way of bypassing the digestive system to provide nutrients and calories completely intravenously — to survive. From the time of his birth, he had experienced unexplainable diarrhea. Answers were desperately needed.

Sequencing his genes in search of clues, neonatologists and collaborators at the Manton Center for Orphan Disease Research at Boston Children’s Hospital identified a new gene mutation responsible for chronic congenital diarrhea — even finding a similar mutation in two other children as well.

Using patient-derived intestinal organoids in the laboratory, the team discovered that the newly-identified gene mutation, WNT2B, appears to stifle intestinal stem cells’ normal function and growth. The findings were published in the American Journal of Human Genetics.

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