Conferenza / Incontro

Rare genetic forms of amyloidopathies; iPSC disease modelling and RNA therapy development

Willeke van Roon-Mom: Department of Human Genetics, Leiden University Medical Center, The Netherlands
11 dicembre 2023
Orario di inizio 
Polo Ferrari 1 - Via Sommarive 5, Povo (Trento)
Aula A108
Organizzato da: 
Dipartimento di Biologia Cellulare, Computazionale e Integrata - CIBIO
Comunità universitaria
Ingresso libero
Dipartimento di Biologia Cellulare, Computazionale e Integrata - CIBIO

In this seminar I will highlight the importance of iPSC disease modelling for very rare genetic disorders of the brain. As a first example I will outline the preclinical development of an RNA targeting therapy for a very rare familiar form of Cerebral Amyloid Angiopathy (D-CAA) caused by a point mutation in the APP gene. Results from traditional cell and mouse models will be discussed, followed by the characterization of a brain organoid model made from D-CAA patient derived induced pluripotent stem cells (iPSCs). Finally, I will outline results from a recently started project to use our knowledge of iPSC modelling and analysis to unravel disease pathology in a patient with a novel and unique APP mutation.

PDF icon Poster del Seminario (PDF | 380 KB)