• Researchers Identify Individuals Resilient to Severe Mendelian Childhood Diseases

Researchers Identify Individuals Resilient to Severe Mendelian Childhood Diseases

A genomic analysis of more than half a million people identified 13 individuals who appear to remain healthy despite carrying genetic mutations linked to severe childhood diseases. Although the biological reasons for this resilience are not yet understood, the study provides a first step toward identification of genetic variants that

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  • A Genetic Cause of Chronic Intestinal Pseudo-obstruction

A Genetic Cause of Chronic Intestinal Pseudo-obstruction

An inherited formĀ of chronic intestinal pseudo-obstruction (CIPO) isĀ caused by mutations in a transcription factor that disrupt the structure and function of enteric innervation, researchers report in the April issue of Gastroenterology. Elena Bonora et al show that patients with CIPO carry mutations in RAD21 that disrupt the ability of its

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