INSC 600 Neurobiology of Disease

Neurodegenerative Diseases II: triplet repeat disorders, inherited neuropathies, musculardystrophies, Friedreich ataxia, lysosomal storage diseases, mitochondrial disorders                    

TIME:                        T, R 10:30 – 12:00 – second half of semester (3/12 – 4/19)

LOCATION:              TBD

TEXTS:                      None. Weekly readings will be assigned.

REQUIREMENTS:  60% written experimental proposal (2-3 pages)

                                    40% discussion during journal club sessions

COURSE DIRECTORS:

David Lynch                                                     lynch@pharm.med.upenn.edu

Steven Scherer 215.573.3198              sscherer@mail.med.upenn.edu             

            J. Paul Taylor               215.573.1147              jpt@mail.med.upenn.edu

GOALS:

General

• Study degenerative diseases in an integrative, detailed fashion.
• Understand recurring themes, such as protein aggregation, reactive oxygen species production, genetic risk modifiers, as well as differing mechanisms among diseases. 
• Examine known genetic disorders, including triple repeat disorders (HD, spinocerebellar ataxias), inherited neuropathies, muscular dystrophies, Friedreich ataxia, lysosomal storage diseases and mitochondrial disorders.

Specific

1) to become familiar with the concept of dynamic genetic mutations, 2) recognize the relationship between expansion size and clinical consequences, 3) understand the rationale for the classification of REDs (repeat expansion diseases) into 3 types, and 4) become familiar with current concepts regarding pathogenesis of REDs.

SCHEDULE:

Either January 8 – Feb 23 (7 weeks) OR Feb 25- April 20 (7 weeks, spring break is Mar 4-8)  

Experimental Proposal

• Choose one of the diseases discussed in class
• Propose an experiment or set of experiments designed to cure the disease or understand a critical component of the pathophysiology of the disease
• Submit a proposal for imaginary grant application. It will include a brief background section (1-2 paragraphs) on the disease and 2-5 specific aims that are each “fleshed out” with a paragraph or two indicating the reasoning behind the experiment and how it would be carried out. After this, include a section on possible “pitfalls” of the approach(s) you have chosen. 
• The total length should be 2-3 pages (single-spaced), unless you become inspired.  These are “thought experiments” so do not worry if what you are proposing is currently possible.  On the other hand, do not propose something so imaginative that it is patently impossible!
• Examples of such proposals during the later part of the course.

DIRECTORY OF LECTURERS