Molecular mechanisms of pediatric neurological disease
Our research group studies both inherited and acquired diseases of the central nervous system as part of ongoing efforts to translate findings from the bench to the bedside and offer new treatments to children with neurological diseases.
Pediatric Movement Disorders and Neurodegenerative Disease
Our primary focus in the laboratory is on movement disorders and degenerative diseases. At the present time, available treatments are largely focused on symptom management, and therapies targeting the underlying disease process are desperately needed. Current projects include studying:
The genetic basis of inherited neurological diseases
The cause of many human neurological diseases remains unknown. Using a combination of microarray-based autozygosity mapping and next-generation sequencing technology in highly genetically-informative families, we are studying the genetic basis of dystonia and parkinsonism. Using a complementary genomic approach will allow us to identify new genes that, when mutated, lead to human neurodegenerative diseases.
Molecular mechanisms that lead to neurodegeneration
Identifying the genetic basis of a disorder is an important first step. Our subsequent efforts are aimed at understanding the factors that stem from genetic mutations and lead to brain diseases.
We apply a number of complementary approaches to study the mechanisms that lead to neuronal dysfunction and cell death. These include cell culture models, often derived from patient donors, as well as studies of human brain tissue. Yeast are employed as valuable models from which to identify important biochemical properties and functional interactions. Mouse models are also being studied in order to dissect the pathophysiology of these disorders.
These projects complement and inform one another as new genetic discoveries are carried forward into mechanistic studies in model systems.
For more information about dystonia, click here.
For more information about Parkinson Disease, click here.
Autoimmune neurological disease
Another area of active research interest is the role that autoimmunity plays in neurological disease. We are studying autoimmune encephalomyelitis and pediatric demyelinating diseases (optic neuritis, acute disseminated encephalomyelitis, and pediatric multiple sclerosis). These diseases have been increasingly recognized as causes of neurologic impairment in children and young adults.
Autoantibodies that lead to acquired brain disorders
By screening serum and cerebrospinal fluid from affected patients, efforts are underway to identify new disease-associated autoantibodies, with important clinical implications for both diagnosis and treatment. In addition, we are studying the contribution of autoantibodies to symptom progression in in neurodegenerative diseases.
Kruer lab summer 2012:
Contact Information for Kruer Lab:
Michael Kruer, MD (PI)
Assistant Professor, Departments of Pediatrics, & Neurosciences
Sanford School of Medicine of the University of South Dakota