Team Profiles

Judith Gault, Ph.D. - Assistant Professor

Graduate School: University of Colorado Health Sciences Center, Denver CO
Email: judith.gault@ucdenver.edu
Phone: 303-724-4132

Research Interests: Dr. Gault is in the midst of investigating the the genetic componets of  cerebral cavernous malformations (CCMs).  CCM’s are a common genetic disease (0.5% of the population harbors them) predisposing patients to a lifetime risk of hemorrhagic stroke and epilepsy.  Germline mutations have been identified in three genes.  We have recently discovered several biallelic somatic and germline CCM1 truncating mutations in the vascular endothelial cells of CCMs.  Somatic mutations appear to be a fundamental mechanism of lesion formation and will likely explain the relationship between heritable and sporadic CCM lesions.  The types of somatic and heritable mutations may related propensity of a lesion to bleed and clinical manifestations.

Email: judith.gault@ucdenver.edu