NRI-Impact-Report-2019_WEB

Intellectual disability
Published in the American Journal of Human Genetics, October 2019
Led by the Duncan NRI’s Dr. Hugo Bellen, a group of international scientists—spanning seven countries
and 13 institutions—discovered a new intellectual disability syndrome. By genetically modifying fruit
flies, they discovered that mutations in the IQSEC1 gene cause this novel disease. Collaborators at the
University of Geneva identified five affected individuals from Pakistan and Saudi Arabia with mutations
in gene IQSEC1 who all exhibit similar symptoms, including intellectual disability, developmental delay,
short stature, and low muscle tone. This is a promising first step toward developing diagnostic tests and,
possibly, targeted treatments.
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