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.
This introductory week overviews this spectrum beginning with a discussion of
neurobiological mechanism that underlie neuropsychiatric disease, an example of
successful bench-to-bedside and bedside-to-bench translational research, and a
Toolbox on clinical trials, the ultimate test of new therapeutic strategy.
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.
Genes and Disease
This theme will examine some of the genes that underlie neurological and
psychiatric disease, using channelopathies and epilepsy as the principal focus.
There will be a clinical session illustrating the clinical presentation and diagnosis
of seizures using patient videotapes. A visiting lecturer, Dr. Jeff Noebels of Baylor
College of Medicine, will describe single gene mouse models of epilepsy and the hunt
for human epilepsy susceptibility genes.
This theme will examine the basic mechanisms of addiction, and current research themes.
There will be a patient interview, toolboxes on functional brain imaging and genetic
mouse models, and an interactive session on behavioral assessment.
This theme encompasses some of the most common neurological diseases including
Alzheimer's and Parkinson's disease. We will use PD as the focus this year to examine
some of the underlying mechanisms, the clinical features of PD, and the therapeutic
options. The sessions will include a Toolbox on deep brain stimulation, a patient
interview, and a visiting lecture by Dr. Valina Dawson of Johns Hopkins on genes
underlying familial Parkinson's disease.
Regeneration and Repair
Regeneration and repair is a goal for many neurological diseases.
We will focus on demyelinating disease and its most common form, multiple sclerosis (MS).
In addition to an overview of demyelinating disease and a clinical interview with an
MS patient, we will examine some of the current research topics including oligodendrocytes
and myelin repair, axonal injury and the immunology of MS. Dr. Robert Miller of CWRU
will be the visiting lecturer.