Lecture 5 'Human genetic engineering to model neurodevelopmental disorders

Question 1

Main problem of using iPSCs

Answer 1

That there is no control. Solutions are cells from parents siblings or correcting the mutation with CRISPR

Question 2

Neurodevelopmental disorders (NDDs)

Answer 2

are commonly defined as disorders of multivariate origin where the cause is unknown or complex, with typical onset in childhood, that may affect areas of cognitive function. Examples are ADHD, communication disorders or specific learning disorders. The problems with NDDs are misdiagnosis, too complicated mechanism and lack of treatments. The disorders can develop because of anatomical malformations and neuronal connectivity unbalance. Monogenic mutation or complex genomic mutations (SNPs or rearrangement) are the cause why the disorders develop.

Question 3

genetic manipulation

Answer 3

Can be Stable, Transiet or non-manipulation

Question 4

NOTCH2NL gene paralogs contribure to rapid evolution of larger human neocortex and are subject to an ongoing adaptive evolution in human populations

Answer 4

But.. in modern humans we observe: gene conversions and deleterious mutations –> the modern population is enriching in low-producing NOTCH2NL variants.