The Hubmacher lab received a microgrant from the Rare Disease Foundation and the BC Children’s Hospital Foundation in Canada. With this grant, we will study whether extracellular matrix function can be restored in cell lines derived from Marfan syndrome patients that harbor a premature stop-codon mutation in the fibrillin-1 (FBN1) gene. The results of our study may potentially delineate a personalized medicine approach in the treatment of Marfan syndrome that could be applicable to as much as 15% of patients.
