|
|
Dave Pearce, PhD :: Senior Scientist & Director (SCHRC); Vice President, Sanford Research/USD
I am fortunate to guide the following individuals in our pursuit of understanding the molecular basis of lysosomal storage disorders such as Batten disease.
|
 |
Lauren Beaumont :: Research Associate
As a research associate, I aid in the development of our rare diseases database called CoRDS. Within CoRDS, I focus on participant recruitment and enrollment as well as data collection and input. I am also the outreach coordinator for education, organizations, and clinicians.
|
 |
Sarah Brink :: Research Associate
My primary focus is managing our mouse colony, which includes overseeing multiple genotypes, breeding, weaning, and organizing mice for different research projects. Along with managing the mouse colony I am also in charge of genotyping our mice.
|
 |
Chun-Hung Chan, PhD :: Assistant Scientist
As a developmental neurobiologist, I am interested in the mouse Cln3-/- mutant model from a developmental standpoint. In particular, I focus on changes observed in the structure of the cerebral cortex in animal models of Batten disease, with the aim to link these structural abnormalities to functional changes in the human brain. Using classical histological methods combined with molecular biology, biochemistry, and cell biology techniques, we hope to elucidate the neurodegenerative changes that occur to help us understand the underlying causes of this disease.
|
 |
Krystal Clark :: Research Associate
My work focuses on characterizing the changes in the expression of pathophysiologically relevant proteins in the brain of the Cln3 knock-out mouse model of juvenile Batten disease. I will also study the in vivo specificity of the physical interaction between CLN3 and its reported interacting partners (e.g., calsenilin, fodrin, Na+, K+-ATPase) to gain information on CLN3 function in the brain. I also assist in maintaining the logistical operation of the laboratory.
|
 |
Liz Donohue :: Director, Coordination of Rare Diseases at Sanford (CoRDS)
I am the Director of the CoRDS (Coordination of Rare Diseases at Sanford) registry, a national patient registry for all rare diseases. I work to coordinate the development of this resource that was established by Dr. Pearce to accelerate research efforts into rare diseases. For more information on the CoRDS registry, please visit the CoRDS webpage.
|
|
Rozzy Finn :: Graduate Student
Mutations in the CLN1 gene that encodes the enzyme palmitoyl protein thoiesterase 1 (PPT1) cause INCL. As a graduate student, my project will involve looking at defects in the nervous system of the INCL mouse model. I plan to use cerebellar granule cell cultures and a number of histological techniques to shed light on the precise function of PPT1 in the CNS and the mechanisms involved in the neurodegeneration seen in the disease.
|
|
|
Sam Hersrud :: Graduate Student
I am investigating the role of the immune system in juvenile Batten disease using a Cln3 knockout mouse model. One part of the project involves characterizing T lymphocyte subsets in various lymph organs using flow cytometry. I will also look at innate and adaptive immune cells and cytokine activity in the brain.
|
|
|
Deanna Langager :: Research Associate
As a research associate, I work with the yeast model to study Batten Disease.Using the powerful genetic advantages of yeast, I am trying to understand the function of BTN1, the homolog for CLN3.
|
 |
Marianna Madeo :: Post-Doctoral Research Fellow
I’m a post-doctoral research fellow in Biochemistry at University of Calabria in Molecular Biology and Biochemystry Laboratory, coordinated by Prof. V. Dolce. Using Saccharomyces cerevisiae as a model, I am working on the characterization of yeast Avt7p vacuolar protein, that can be useful to understand the function of the human orthologue proteins, the SLC36 family.
|
 |
Jake Miller :: Graduate Student
I am a MD/PhD student at the Sanford School of Medicine of the University of South Dakota. I will be working in Dr. Pearce’s lab studying the CLN3 gene and its role in Batten disease (JNCL). Specifically, I will be focusing on CLN3 mRNA transcript regulation as well as studying miRNA (microRNA) involvement in JNCL pathogenesis.
|
 |
Attila Kovacs, PhD :: Assistant Scientist
Mutations of the CLN3 gene cause the juvenile onset form of Batten disease, but the function of the CLN3 protein is still unknown. To shed some light on CLN3 function in neurons, I have been performing comparative studies in primary neuronal cell cultures and brain slice cultures prepared from wild type and Cln3 knock-out mice. Using cell and molecular biological approaches, the involvement of CLN3 in cell fate determination, neurotransmitter receptor expression, trafficking and degradation will be determined. A new therapeutic approach has been developed based on our results, & the preclinical pharmacological studies are in progress.
|
 |
Sergio Padilla-Lopez, PhD :: Staff Scientist
The main focus of my research is the yeast model for Batten Disease. Using Saccharomyces cerevisiae as a model, I am trying to understand which biochemical pathways and cell mechanisms are affected in yeast strains that lack BTN1, the human CLN3 orthologous gene. Using the powerful genetic and molecular biology techniques this model allows, I am working to uncover the cellular function of Btn1p, which would help us understand the molecular basis of this devastating disease.
|
|
.jpg)
|
Sarah Radel :: Lab Manager
I am responsible for many of the operational and logistical needs of the Pearce lab, oversight of the animal colonies, and supervision of research associates in general lab maintenance and operations.
|