Pearce Lab

Primary research focus

David Pearce, PhD

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.
  • President of Research, Sanford Health
  • Senior Scientist, Children’s Health Research Center
  • Professor for the Department of Pediatrics, Sanford School of Medicine of the University of South Dakota

Sanford Research - Pearce Lab

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.

Resources
Access Dr. Pearce's publications here.
Meet members of the Pearce lab here.

 

Lab Projects Contact Information
Behavioral and pathological characterization of novel mouse models of the fatal neurodegenerative disorders, infantile, late infantile and juvenile Batten diseases Telephone: (605) 312-6004
Email: david.pearce@sanfordhealth.org
Testing various pharmacotherapeutic approaches in mouse models of infantile, late infantile and juvenile Batten diseases
Electrophysiological characterization of abnormalities in neurotransmission in mouse models of infantile, late infantile and juvenile Batten diseases
Pig models for Ataxia telangiectasia and Batten disease

 

Lab News

December 2015, The Pearce team, including Dr. David Pearce, Dr. Attila Kovacs, and Jake Miller co-authored an article in the Journal of Cellular and Molecular Medicine entitled: “Tissue-specific variation in nonsense mutant transcript level and drug-induced read-through efficiency in the Cln1R151X mouse model of INCL.”

December 2015, The Pearce team, including Drs. David Pearce and Chun Chan as well as MD/PhD candidates Sam Hersrud and Ryan Geraets recently published an article entitled “Plasma Biomarkers for Neuronal Ceroid Lipofuscinosis” in the journal FEBS.

October 2015, Drs. Attila Kovacs and David Pearce coauthored a manuscript entitled “Abnormally increased surface expression of AMPA receptors in the cerebellum, cortex and striatum of Cln3-/-” published in Neuroscience Letters.

 

Additional Information

Additional Information on Pearce Lab Research

Lecture on JNCL Research by Dr. David Pearce

Donate to Batten Research