Kruer Lab

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 in children. 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 etiology 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 several pediatric neurological diseases. These include neurodegeneration with brain iron accumulation (NBIA), hereditary spastic paraplegia, dystonia, parkinsonism, and ataxia. 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
The identification of a causative gene represents an important initial step in developing better treatments. However, in most cases development of effective therapies will only be possible after detailed characterization of the molecular pathogenesis of pediatric neurological diseases.
 
We are applying a number of complementary approaches to the study of the molecular mechanisms that lead to neuronal dysfunction and cell death. The function and interactions of novel disease genes identified through gene discovery projects are being characterized using both cell culture models and human neuropathological studies. Yeast are being employed as a valuable model from which to identify important biochemical properties and functional interactions. Mouse models are also being generated and 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 organisms.

For an overview of NBIA, click here.

For more information about dystonia, 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 role of autoantibodies in neurodegenerative diseases (such as lysosomal storage diseases) that seem to play a role in the neurological deterioration that occurs.

 

Contact Information for Kruer Lab:

Michael Kruer, MD (PI)
Associate Scientist, Sanford Children’s Health Research Center
Sanford Research USD

Assistant Professor, Departments of Pediatrics, & Neurosciences
Sanford School of Medicine of the University of South Dakota 

Email: michael.kruer@sanfordhealth.org


Lauren Beamont
Research Coordinator, Sanford Children’s Health Research Center
Sanford Research USD