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What can be modeled with
• ESC
– Monogenicwithknownmutations
– MonogenicKI/KO
– Chromosomal
–
Early onset
• iPSC
– Complexmultigenic
– Unknowngeneticcause
– Environmentalcomponent – Late onset
Successful examples
• Long QTL syndrome
• Huntington disease
• Fanconi anemia
• Down syndrome
• Gaucher disease
(Itzhaki, Nature, 2011) (Moretti, NEJM, 2010) (Lu, FASEB J, 2013)
(Raya, Nature, 2009)
(Weick, PNAS, 2013)
(Tiscornia, Hum Mol Gen, 2013) (Panicker, PNAS, 2012)
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PRECONGRESS COURSE 13 I VIENNA, AUSTRIA – 23 JUNE 2019 17