Professional Summary:

Krabbe Disease (KD), also known as globoid cell Leukodystrophy, is a fatal neurodegenerative lysosomal storage disorder caused by a galactosylceramidase (GALC) deficiency that affects both central and peripheral nervous systems. KD manifests in infants in the first few months of life and presents with severe irritability, muscle rigidity, and motor deterioration, which quickly progresses to overall clinical decline and death within months. Unfortunately, there is no cure for KD. Our limited understanding of the pathogenesis is based on clinical data and the spontaneous mouse model. Hematopoietic stem cell transplantation (HSCT) partially attenuates the course of KD only if performed before the onset of symptoms, presumably because stem cell derivatives secrete GALC that is uptaken by myelinating glia via the mannose-6-phosphate receptor, so-called cross-correction. However, it is not clear how efficiently cross-correction happens in vivo, if only myelin-forming glia need to be corrected, and at which developmental stage. Furthermore, accumulation of the lipid psychosine due to GALC deficiency contributes to KD by killing myelin-forming glia and neurons. Still, the relative importance of psychosine, its origin, and the sequence of pathogenic events is unclear. We recently developed a conditional Galc floxed allele and have done lots of in vivo and in vitro analyses with multiple different conditional Galc knockout mouse models to understand the primary disease mechanisms of KD and the limitations of HSCT. We are studying more deeply what pathogenic processes secondary to primary defects are critical for the disease. We hope to develop better therapies for KD and similar lysosomal, neurodegenerative, and demyelinating diseases.

Opportunities are available for outstanding individuals interested in the pathophysiology of neurological disorders. A strong background in Neuroscience, Genetics, Biochemistry, and/or Cell Biology is desirable. If you would like to apply for a research position (Postdoc, PhD student, or Research Technician), please email your CV and a brief description of yourself to Dr. Shin.

Education and Training:

• PhD, Neuroscience, Korea Advanced Institute of Science and Technology (2003)
• MS, Korea Advanced Institute of Science and Technology (1999)
• BS, Korea Advanced Institute of Science and Technology (1997)

Employment:

• Assistant Professor, Biotechnical and Clinical Laboratory Sciences, University at Buffalo (2020-present)
• Principal Investigator, Hunter James Kelly Research Institute (2011–2020)
• Post Doctoral Fellow, Neurology, University of California San Francisco / HHMI (2005–2011)

Awards and Honors:

• Travel Stipend Award - Gordon Conference (Lysosomal disease) (2019)
• Young Investigator Award - Neurobiology of Disease in Children Symposium (2017)
• Travel Fellowship Award - American Neurological Association (2010)