The neurobiology of disease refers to fundamental genetic, molecular, cellular,
systems, and behavioral abnormalities that contribute to the manifestations of
disease. From a practical perspective, disease-oriented research is not necessarily
the same thing as the currently popular term, translational research. Translational
research is usually defined as research directed at a specific disease or disease
manifestation, and often implies relatively immediate application to humans.
Unfortunately, many areas of neurological and psychiatric disease still lack
fundamental insights or technology required for therapeutic application.
Likewise, there are many examples where "undirected" basic research has led to
clinical breakthroughs. Thus there is room (and great need) for both basic research
as well as translational research. The introductory session overviews this spectrum,
beginning with a discussion of neurobiological mechanisms that underlie neuropsychiatric
disease. A clinical session will introduce the practical aspects of how neurological
diagnoses are made.
This course is a "sampler" so participants should not expect to walk away with a
comprehensive understanding on any one disease or disease mechanism, but rather with an
appreciation of the impact of disease on patients, and an understanding of the potential
links between basic science and disease mechanisms.
Neurodegenerative disease (Huntington's disease)
This theme will examine topical issues in neurodegenerative disease, using
Huntington's disease as our focus this year. There will be a clinical session
illustrating the clinical presentation and a Toolbox on clinical trials, the ultimate
test of a new therapeutic strategy. Two sessions will explore specific hypotheses concerning
the mechanisms of neurodegeneration/cell death in HD. A visiting lecturer, Dr. Karen Hsaio
Ashe will discuss the value and limitations of animal models, based on her work on Alzheimer's
Regeneration and repair (brain and spinal cord trauma)
This theme will examine the clinical effects of brain and spinal cord trauma, and
potential mechanisms for regeneration and repair. Both acute and chronic aspects of
injury, as well as therapeutic strategies will be considered. We will conclude with a
session on considering prevention as a strategy with immediate impact. There will be two
visiting lecturers in this theme, Dr. John Povlishock will discuss his work on mechanisms
of traumatic brain injury, and Dr. Oswald Steward will address approaches to regeneration
and repair in spinal cord injury.
This theme encompasses one of the most common neurological diseases: ischemia due to
lack of brain perfusion, be it due to cardiac arrest or vessel occlusion by thrombus or
embolus. We will examine some of the underlying mechanisms, the clinical features of stroke,
and the therapeutic options. The sessions will include a Toolbox on interventional radiology
for acute stroke treatment; a patient interview; and two sessions on current research topics -
the influence of hormones on ischemia and stroke, and the role of neuroprotection/preconditioning
in limiting ischemic damage.
Synaptic function and dysfunction in the peripheral nervous system
This theme will explore some classic neurological diseases that affect the
neuromuscular junction. There will be a Clinical Demonstration on myasthenia gravis
and Lambert-Eaton syndrome, as well as a hands-on Toolbox on the assessment of peripheral
nerve function with nerve conduction times and electromyography. One session will explore
some of the mutations that cause congenital myasthenia and what they tell us about the
organization of the neuromuscular junction and the etiology of myasthenia.