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Phenotyping Human Disease Mail Email this article  
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Course Director:  Robin Lorenz, M.D., Ph.D.

Biomedical scientists of the 21st century must have the breadth of understanding toparticipate in investigative activities which span a wide range of disciplines. Competencies in structuraland functional biology are prerequisite to understanding the complex interactions of genomics andproteomics. The goals are to introduce fellows to the basics of structural and functional biology (histologyand classical pathology) in the context of clinicopathologic case studies. Emphasis is given to animalmodels of human disease to provide a focal point for understanding basic investigative mechanisms andprocedures.

This course has been organized to provide the conceptual framework behind manyexperimental approaches to discovering and quantifying disease phenotypes, as well as hands-onopportunities to see how these approaches are performed in real experimental situations (human autopsy and examples of animal models). This course occurs during the first year so that fellows can utilize theseimportant methodologies for their dissertation.

Course Description:

This course uses a combination of didactic lectures and hands-on laboratories to teach multiple methods for analyzing disease phenotypes inhumans and in animal models. It is organized around 4-5 disease themes, which each demonstrate specificapproaches. Course instructors are UAB investigators and Core Directors with expertise in the diseaseareas or techniques being taught. Disease themes and the specific approaches illustrated have included:

 

MRI and ultrasound to analyze cardiovascular structure and function in man and animal models

 

Optical imaging to analyze metastatic behavior and novel gene therapy approaches 

 

Behavioral and neurological examinations 

 

Behavioral and memory analysis in animal models

 

Genetic analysis and genetically engineered animals

 

Laboratory and imaging analysis

 

Models of ischemia-reperfusion injury

 

Histological and molecular analysis

 

Fellows gain knowledge and tools to conduct phenotyping studies in multiple types of diseases. This allows identification of the nature of the defect/disease and assessment of how such alterations relate to deviation of normal gene expression, cellular physiology, and structural ramifications.

 



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