Genetic research offers hope for children with rare intestinal disorders

A copy number variation morbidity map of developmental delay

Evan Eichler and colleagues analyze copy number variation in 15,767 children with intellectual disability, developmental delay, congenital birth defects and/or other related phenotypes. They identify 59 likely pathogenic CNV regions, including 14 new candidate regions, and estimate that ~14% of disorders in this sample collection are caused by large CNVs. To understand the genetic heterogeneity underlying developmental delay, we compared copy nu…

Novel genes linked to rare childhood diarrhea disorder

At only two days old, Sophie was losing too much weight, and too quickly. Further genetic testing would show that Sophie has one of a group of rare conditions called CODE (congenital diarrhea and enteropathies) that disrupts the function of cells in the intestine, causing diarrhea and preventing infants from absorbing the nutrients they need to grow and thrive. For Sophie's parents, Samantha and Kyle, this meant a complete re-envisioning of the …

Genetic research offers hope for children with rare intestinal disorders

Further genetic testing would show that Sophie has one of a group of rare conditions called CODE (congenital diarrhea and enteropathies) that disrupts the function of cells in the intestine, causing diarrhea and preventing infants from absorbing the nutrients they need to grow and thrive.

Congratulations to Sophie Pierce, First Person to With Cystic Fibrosis to Row Across the Atlantic

Image: Atlantic Dash Sophie Pierce did not believe she would live until she was 30 due to cystic fibrosis, a genetic illness affecting her ability to breathe. Remarkably, she has just completed a world record-breaking row, at age 32, becoming the first person with the condition to row the Atlantic. As part of Cruising Free, a team of four women rowers from Neyland Rowing Club, Pembrokeshire, she set off on a 3200-mile unsupported row across the …

Multi-Center Study Uncovers Genetic Underpinnings of Congenital Diarrhea and Enteropathies

A new multi-center study co-led by scientists from UCLA Health has uncovered critical genetic insights into a group of rare disorders affecting intestinal epithelial cell function, paving the way for targeted therapies that could significantly improve patient outcomes.

Linked to rare childhood diarrhea novel genes found by researchers

Last Updated on April 3, 2025 by Nivedita New Delhi, April 3 (IANS) 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 […] The post Researchers find novel genes linked to rare childhood diarrhoea appeared f…