Summary
Summary Neurogenetics (Result: 18/20)
- Course
- Institution
This document contains all the lectures given during neurogenetics. The content table is visible as example of the document
[Show more]
1 review
By: lemmeslodders • 6 months ago
Seller
Follow
UABMW2000
Reviews received
Content preview
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
1
The benefits of buying summaries with Stuvia:
Guaranteed quality through customer reviews
Stuvia customers have reviewed more than 700,000 summaries. This how you know that you are buying the best documents.
Quick and easy check-out
You can quickly pay through credit card or Stuvia-credit for the summaries. There is no membership needed.
Focus on what matters
Your fellow students write the study notes themselves, which is why the documents are always reliable and up-to-date. This ensures you quickly get to the core!
Frequently asked questions
What do I get when I buy this document?
You get a PDF, available immediately after your purchase. The purchased document is accessible anytime, anywhere and indefinitely through your profile.
Satisfaction guarantee: how does it work?
Our satisfaction guarantee ensures that you always find a study document that suits you well. You fill out a form, and our customer service team takes care of the rest.
Who am I buying these notes from?
Stuvia is a marketplace, so you are not buying this document from us, but from seller UABMW2000. Stuvia facilitates payment to the seller.
Will I be stuck with a subscription?
No, you only buy these notes for $11.81. You're not tied to anything after your purchase.
Can Stuvia be trusted?
4.6 stars on Google & Trustpilot (+1000 reviews)
52510 documents were sold in the last 30 days
Founded in 2010, the go-to place to buy study notes for 14 years now