Research Projects

Recognizing that lysosomes perform multiple essential functions for cells, we reasoned that cells must have the ability to sense the status of their lysosomes and to adjust the activity of their lysosomes to match ongoing changes in demand.

Birt-Hogg-Dubé syndrome is a human disease that is characterized by numerous benign hair follicle tumors, the growth of pulmonary cysts that confer a high risk for collapsed lungs (pneumothorax) and a very high incidence of kidney cancer (renal carcinoma).

Neuronal ceroid lipofuscinosis (NCL) defines a group of neurodegenerative diseases that are characterized by the accumulation of autofluorescent pigment within lysosomes. Mutations in at least 12 different human genes (the list is still growing) give rise to distinct NCL variants.

While less common than Alzheimer’s disease, it is now thought that frontotemporal dementia (FTD) may account for up to 15% of all cases of human dementia. Mutations in the progranulin (PGRN) gene are a major cause of FTD.

Excess levels of the amyloid ß (Aß) peptide and the aggregation of the Aß peptide within extracellular amyloid plaques are defining features of Alzheimer’s disease brain pathology