University of Massachusetts

If you are the contact person for this centre and you wish to make any changes, please contact us.

SMC participants

Professor of Neurology and Paediatrics at the University of Massachusetts

Contents related to this centre

People with Down syndrome often have heart problems, which can affect their life expectancy. However, the genes responsible among the 230 possible candidates were not known. A team of researchers used human tissue and mouse embryonic hearts and concluded that an extra copy of the DYRK1A gene is important in the process. In addition, they have tested a treatment in early gestation in mouse models that reduces its consequences. The research is published in Science Translational Medicine.