Diseases Studied

A spectrum of disorders caused by mutations in the PTEN gene which typically suppresses tumors in germline (egg or sperm) cells. The hallmark characteristic of the disorder is the widespread presence of multiple hamartomas (localized, benign, tumor-like malformations) which contain a mixture of mature cells and tissue. Affected individuals may have an increased risk for certain cancers and neurodevelopmental disorders.

A genetic condition in which typically benign tumors affect multiple organs including the brain, kidneys, heart, lungs, eyes, and skin. This disorder often manifests within the first six months of life. Severity of symptoms range from mild, such as skin abnormalities, to severe, such as seizures, developmental delay, intellectual disability, or renal failure.