Clinicians at Massachusetts General Hospital’s Undiagnosed Diseases Network say they have connected a mutation in a poorly understood area of the #genome to the rare disorder called multisystemic smooth muscle dysfunction syndrome ( #MSMDS ) .

Shedding light on this area of the genetic code could have “profound implications for all of #genetics,” explains co-author David Sweetser, Chief of Medical Genetics and Metabolism at Massachusetts General Hospital ( #MGH ).

https://www.healthing.ca/diseases-and-conditions/rare-diseases/gene-discovery-genetics-massachusetts-general-hospital#Echobox=1678477130-10