Neurodegenerative Diseases II - INSC 600-001

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 Overview

Neurodegenerative 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.

Module Goals

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 2009

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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

Viewing the Lectures from 2007

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Lectures from Neurodegenerative Diseases II - Spring 2007

Lecture Title	Lecturer	Date	Real video
1. Introduction to genetic neurodegenerative diseases	Dr. Lynch	Tues Feb 27
2. Introduction to repeat expansion diseases (REDs); RED classification; mechanistic aspects of type1 REDs.	Dr. Taylor: Kennedy's disease patient visit	Thurs Mar 1
3. Friedreich ataxia	Dr. Lynch: Friedreich ataxia patient visit	Tues Mar 6
4. Triplet repeat diseases: Disease specific mechanisms in triplet repeat disease ROS production	Dr. Lynch	Thurs Mar 8
5. Friedreich ataxia-basic and clinical science	Dr. Wilson	Tues Mar 13
6. Mechanistic aspects of type 2 and 3 REDs	Dr. Taylor	Thurs Mar 15	class to be rescheduled
7. Congenital Myopathies: Nemaline Myopathy; Myotubular Myopathy; Central Core Myopathy	Dr. Bonnemann	Tues Mar 20	no video or slides
8. Neuromuscular junction disorders	Dr. Lindstrom	Tues Mar 22	cancelled
9. Inherited Neuropathies	Dr. Scherer	Tues Mar 27
10. Duchenne Muscular dystrophies	Dr. Bonnemann	Thurs Mar 29	no video or slides
11. Mechanistic aspects of type 2 and 3 REDs	Dr. Taylor	Tues Apr 3
12. Mitochondrial disease	Dr. Lynch	Thurs Apr 5
13. Gene therapy in the Central Nervous System (and Lysosomal disorders)	Dr. Wolfe	Tues Apr 10
14. Hereditary spastic paraparesis and new directions in the Neurobiology of the Tuberous Sclerosis Complex	Dr. Crino	Thurs Apr 12
15. Gene therapy for neurodegenerative disease	Dr. Wolfe	Tues Apr 17

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