David Pearce, PhD, Lab
Primary Research Focus
Research in the Pearce Lab is focused on understanding the molecular basis of several inherited pediatric neurodegenerative diseases including the infantile, late infantile and juvenile onset forms of Batten disease. Dr. Pearce and his team use mouse and miniature pig models of these rare, fatal diseases to reveal molecular and cellular pathomechanisms, to identify new therapeutic targets and to test new therapeutic approaches.
Behind the research
Batten disease, also known as Neuronal Ceroid Lipofuscinoses (NCLs), is a group of recessively inherited, fatal lysosomal storage disorders characterized by the intracellular accumulation of autofluorescent lipopigment and progressive neurodegeneration. No treatment is currently available that could halt or slow down the progression of these rare, fatal diseases mostly affecting children. The infantile, late infantile and juvenile onset forms of Batten disease is caused by mutations in the CLN1, CLN2 and CLN3 genes, respectively. CLN1 and CLN2 encode soluble enzymes of the lysosome (the waste disposal/recycling organelle of the cell), whereas CLN3 encodes a transmembrane protein with unknown function, mainly localized in the membrane of lysosomes and endosomes (transporting vesicles in the cell). The Pearce Lab has generated or in the process of generating novel mouse and miniature pig models of infantile, late infantile and juvenile Batten diseases. All these models carry human disease-causing mutations, and after detailed molecular, pathological and neurological characterization, they will be used to test novel therapeutic approaches.