Triplet repeat disorders, inherited neuropathies, muscular dystrophies, Friedreich ataxia, lysosomal storage diseases, mitochondrial disorders
2009 schedule is M/W 2:00-3:30; Beginning Mar 9 (Mon) through Apr 22 (Wed)
Module OverviewNeurodegenerative diseases represent a major area of advance over the past 10 years. During this time, a variety of technique and pathophysiological mechanisms have become common to different degenerative disorders prompting the need for studying them in an integrative, detailed fashion. This module will use detailed critical literature assessment guided by expert faculty members along with faculty seminar like presentations to present recurring themes (protein aggregation, reactive oxygen species production, genetic risk modifiers) as well as differing mechanisms among diseases. This module will examine known genetic disorders, including triple repeat disorders (HD, spinocerebellar ataxias), inherited neuropathies, muscular dystrophies, Friedreich ataxia, lysosomal storage diseases and mitochondrial disorders. These topics will provide a framework for investigating more common sporadic degenerative disorders - Alzheimer's disease, Parkinson disease, amyotrophic lateral sclerosis - that are covered in Neurodegenerative Diseases I.
- To survey the progress in the Neurobiology of Disease and provide students direct contact with scientists who are familiar with these topics.
- 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.
- To become familiar with the concept of dynamic genetic mutations; recognize the relationship between expansion size and clinical consequences; understand the rationale for the classification of REDs (repeat expansion diseases) into 3 types; become familiar with current concepts regarding pathogenesis of REDs.
- Write a good one page summary.
Viewing the Lectures from 2009From a PC: Just click on the link
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Lectures - Spring 2009
|1. Introduction to genetic neurodegenerative diseases; Introduction to repeat expansion diseases (REDs); RED classification;||Dr. Lynch SCA patient||Mon Mar 9||Video/Slides|
|2. Triplet repeat diseases: Disease specific mechanisms in triplet repeat disease ROS productionx||Dr. Lynch||Wed Mar 11||Video/Slides|
|3. Mechanistic aspects of type 1 and 2 REDs. Fragile X||Dr. Bonini||Mon Mar 16||Video/Slides|
|4. Mechanistic aspects of type 3 REDs 5. Friedreich ataxia||Dr. Lynch Friedreich ataxia patient||Wed Mar 18||Video/Slides|
|5. Friedreich ataxia-basic and clinical science||Dr. Wilson||Mon Mar 23||Video/Slides|
|6. Neurobiology of the Tuberous Sclerosis Complex||Dr. Crino; Patient or discussion||Wed Mar 25||Video/Slides|
|7. Motor neuron diseases||Dr. Kalb; Patient or discussion||Mon Mar 30||Video/Slides|
|8. Peripheral Neuropathies||Dr. Scherer; Patient with neuropathy||Wed Apr 1||Video/Slides|
|9. Hereditary Spastic Paraparasis||Dr. Scherer||Mon Apr 6||Video/Slides|
|10. Neuromuscular junction disorders||Dr. Bonnemann||Wed Apr 8||Video/Slides not available|
|11. Muscle disease||Dr. Bonnemann||Mon Apr 13||Video/Slides not available|
|12. Neuromuscular Junction Disorders||Dr. Jon Lindstrom||Wed Apr 15||Video/Slides|
|13. Gene therapy and lysosomal disorders||Dr. Watson||Mon Apr 20||Video/Slides|