New research diagnoses for the the first time a patient with a rare genetic disorder caused by changes to the CHASERR gene and highlights the need to examine the non-coding parts of the genome in rare diseases.

From Anne O’Donnell-Luria,  Gemma L. Carvill (Northwestern) and colleagues, first authors Vijay S. Ganesh and Kevin Riquin (Nantes Université). Read more at HMS News.