December 2017 Dr. David Pearce attended a research conference in Bethesda, MD focused on management of CLN1 and CLN2 Batten Disease. The conference brought together Batten disease researchers, families, and other academic researchers to discuss how to continue to move Batten research forward. "Batten Disease: 2017 Update of Translational Research for Management of INCL/LINCL".
November 2017 Dr. David Pearce was invited to speak at the annual World Orphan Drug Congress in Barcelona Spain. This event brings together stakeholders and influencers in the orphan drug and rare disease space. Dr. Pearce presented “Integrating rare disease patient registries into electronic health records”, with an overview of the CoRDS registry.
November 2017 Drs. Attila Kovacs and David Pearce published an article in Bioscience Reports on use of commercial anti-CLN3 antibodies on animal samples. "Lack of specificity of antibodies raised against CLN3, the lysosomal/endosomal transmembrane protein mutated in juvenile Batten disease."
September 2017 Dr. David Pearce gave two invited presentations at the annual International Conference on Rare Diseases & Orphan Drugs in Beijing, China. This conference brings together individuals active in rare diseases and/or orphan drugs across areas of healthcare, research, patient advocacy and public policy. Dr. Pearce presented on the use of animal models for rare diseases and the integration of natural histories into employee health records for a more accurate diagnosis of rare diseases.
August 2017 Drs. David Pearce, Benson Hsu and Emily Griese authored a commentary published in South Dakota Medicine discussing the innovative infrastructure of the Sanford Data Collaborative, a first-of-its-kind health care data sharing initiative to evaluate and transform health care delivery. “Data sharing: leading data-driven population health”
August 2017 Drs. David Pearce and Attila Kovacs co-authored a research article published in the Journal of Molecular Neuroscience investigating the feasibility of high-content drug screening on neurons cultured from mice genetically modified to model Juvenile Batten Disease. "Pharmacological effects of ceroid lipofuscin and neuronal structure in Cln3 ?ex7/8 mouse brain cultures".
July 2017 Dr. David Pearce led a collaborative research article with Drs. Alexei Savinov, Attila Kovacs, and Jill Weimer published in Biochimica et Biphysica Acta investigating systemic effects such as infertility and immune dysfunction due to ataxia telangiectasia using a novel porcine model. "Genetic Ataxia Telangiectasia porcine model phenocopies the multisystemic features of the human disease" https://www.ncbi.nlm.nih.gov/pubmed/28746835
June 2017 Dr. David Pearce co-authored a clinical research article published in JAMA Opthalmology detailing clinical, electrophysiologic and genetic features across patients with CLN3 Batten disease-associated retinal degeneration. "Detailed clinical phenotype and molecular genetic findings in CLN3-associated isolated retinal degeneration."
May 2017 Drs. David Pearce and Jill Weimer published a research article in PLoS One characterizing a new mouse model of Cln2-infantile Batten disease which can be used for preclinical screening of nonsense suppression drugs. "A tailored mouse model of CLN2 disease: A nonsense mutant for testing personalized therapies."
April 2017 Drs. David Pearce and Attila Kovács published a research article in the Journal of Cellular Biochemistry studying novel regulatory function of CLN3 which is mutated in the juvenile-onset form of neuronal ceroid lipofuscinosis, a childhood fatal neurodegenerative disorder. "Role of the lysosomal membrane protein, CLN3, in the regulation of cathepsin D activity."
February 2017,David Pearce, PhD, and Attila Kovacs, PhD, authored a research article titled "Decreased sensitivity of palmitoyl protein thioresterase 1-deficient neurons to chemical anoxia" in the journal Metabolic Brain Disease. They found that genetic deficiency in CLN1 is associated with impaired neuron mitochondrial function and may contribute to the pathogenesis of infantile neuronal ceroid lipofuscinosis.
November 2016, Dr. Pearce's laboratory published a paper entitled "Decreased sensitivity of palmitoyl protein thioesterast 1-deficient neurons to chemical anoxia" in the Journal Metabolic Brain Disease. https://www.ncbi.nlm.nih.gov/pubmed/?term=27722792
September 2016, Dr. Attila Kovacs of the Pearce laboratory presented a poster entitled "Altered microbiome changes neurological function in mice: Potential implications for studying neurodegenerative disease" during the Exploring Human Host-Microbiome Interactions in Health and Disease conference in Hinxton, UK.
August 2016, Dr. Pearce presented "Genetics 101" to Batten's families at the 2016 Batten Disease Support and Research Association Family Conference in St. Louis, MO.
June 2016, Drs. Peter Vitiello and David Pearce as well as CHRC adjunct faculty member Dr. Seasson Vitiello recently published a study entitled “Disruption of a cystine transporter downregulates expression of genes involved in sulfur regulation and cellular respiration” in the journal Biology Open.
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.