The Kruer lab 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.
The Kruer Lab's 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, they 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.
They 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.
Autoimmune neurological disease. Another area of active research interest is the role that autoimmunity plays in neurological disease. They 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, they 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.
Position summary: Performs independent scientific research including complex laboratory testing, experiments and analysis following established protocols. Designs and develops research objectives for experimentation. Analyzes and evaluates findings. Assists in completion of grant applications and other regulatory documents. Writes technical summaries and co-authors articles for publication. Prepares and makes formal presentations of research results. Typically works under broad direction of principal investigator.
High level of knowledge in scientific research processes, procedures, and objectives. Must possess ability to implement experiments in the subject discipline with the ability to trouble shoot issues. Good knowledge of the principles and techniques of the subject discipline required. Possesses ability to run complex pieces of equipment requiring advanced specialized training. Must possess knowledge of modern research methods, data collection and analysis. Must have significant experience in analyzing and evaluating data. General level of knowledge of project management, decision-making, and analytical skills. Strong verbal, written, and interpersonal communication skills. Ability to work collaboratively with a research group or team.
When students are providing patient care, treatment, and/or services as a part of their training, any/all employees may be asked to supervise the students. When students are providing patient care, treatment, and/or services as a part of their training, any/all employees may be asked to supervise the students.
Requires a PhD degree in a clinical, health, or life science field or MD with sufficient publication history as approved by VP of Research. Prefer previous relevant experience. Management experience is highly recommended.
Sanford Health - 20 months ago
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