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Summary Neurogenetics (Result: 18/20)
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This document contains all the lectures given during neurogenetics. The content table is visible as example of the document
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By: lemmeslodders • 5 months ago
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ContentNeurogenetics ....................................................................................................... 3
Introduction to Neurogenetics .............................................................................. 3
Classification of neurological disorders ................................................................ 3
Factors suggesting a neurogenetic disorder ......................................................... 4
Inheritance patterns in neurological disorders ...................................................... 4
Gene identification methods .............................................................................. 5
Common versus rare genetic mutations .............................................................. 8
Types of disease-causing genetic variation .........................................................10
Key concepts from chapter I .............................................................................13
Genetic mechanisms ..........................................................................................14
Gain versus loss of function disease mechanisms ................................................14
SMN1 (recessive loss of function) -> SMA: spinal muscular atrophy ......................14
Role of epigenetics in neurological disorders .......................................................21
Mosaic mutations in neurological disorders .........................................................23
Role of mitochondrial genome in neurological diseases ........................................25
Key concepts of this chapter II .........................................................................25
Repeat expansion disorders ................................................................................26
What are tandem repeat expansions .................................................................26
How can tandem repeat expansions play a role in disease ....................................27
Lab methods for tandem repeats ......................................................................28
Role of location of tandem repeats and examples ................................................31
Key concepts from chapter III ..........................................................................35
Genetic disease modifiers ...................................................................................36
Definitions .....................................................................................................36
Approaches to identify genetic disease modifier ..................................................36
Human/ population studies...............................................................................37
Model organism genetics ..................................................................................40
Functional assays ............................................................................................44
Key concepts ..................................................................................................45
Therapeutic strategies ........................................................................................46
Introduction to treating genetic neurological diseases (challenges and broad
approaches) ...................................................................................................46
Overview of gene therapy approaches ...............................................................47
Clinical trial design in neurological diseases (defining endpoints, use of biomarkers)53
Examples .......................................................................................................55
Key concepts lecture .......................................................................................62
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