The Genetics of Situs Inversus without Primary Ciliary Dyskinesia

The genetics of situs inversus without primary ciliary dyskinesia

Situs inversus (SI), a left-right mirror reversal of the visceral organs, can occur with recessive Primary Ciliary Dyskinesia (PCD). However, most people with SI do not have PCD, and the etiology of their condition remains poorly studied. We sequenced the genomes of 15 people with SI, of which six had PCD, as well as 15 controls. Subjects with non-PCD SI in this sample had an elevated rate of left-handedness (five out of nine), which suggested p…

New study decodes genetic influences on brain structure

A research team has identified genetic factors that influence the shape of subcortical brain regions—far beyond volume measurements. The results could open up new approaches for the early detection of neurological and mental disorders.

Study identifies new genetic cause of neurodevelopmental disorders

A seminal study from researchers at the Icahn School of Medicine at Mount Sinai and their collaborators in the United Kingdom, Belgium, Spain, the Netherlands, and Iceland has uncovered a new genetic cause of neurodevelopmental disorders (NDDs). The discovery offers both closure and hope to potentially thousands of families worldwide who have long been searching for answers.  The study, published in the April 10 online issue of Nature Genetics […