MENU
AUG 30, 2016 8:00 AM PDT

Use of Stem Cell models to assess Genetic Change Underlying Neurodevelopmental Disorders

Speaker
  • ARC DECRA Fellow, Neurogenetics Research Program, School of Medicine, Faculty of Health Sciences, The University of Adelaide, Australia
    BIOGRAPHY

Abstract
The study of human genetic neurodevelopmental disorders (NDDs) is complicated by the inaccessibility of the relevant tissue for study: it is extremely rare to obtain post-surgical brain samples from patients, and the origins of disease often occur in-utero. The technologies of ex-vivo stem cell culture is a valuable tool to study embryonic development. Derived from the embryo and cultured under appropriate conditions, both embryonic stem and committed neural stem cells display multipotent features of the tissue they are derived from, and are licenced in-vitro with the properties of unlimited self-renewal.  The subsequent differentiation of these cells recapitulate many aspects of in-vivo development and can be used to model embryonic brain development. Because of these attributes, and the ease of genetic and other manipulations afforded in-vitro, we have employed these models to assess the effects of gene mutations that underlie neurodevelopmental disorders. We have been able to assign neurodevelopmental functions to newly discovered novel genes, test the pathogenicity of variants of unknown significance, and identify aspects of brain development likely affected in patients harbouring deleterious mutations.
 

Show Resources
You May Also Like
SEP 14, 2021 7:00 AM PDT
C.E. CREDITS
SEP 14, 2021 7:00 AM PDT
Date: September 14, 2021 Time: 7am PDT, 10am EDT, 4pm CEST A conventional thermal cycler has long been a commodity product in the lab and end-point PCR techniques can be completed almost wit...
NOV 09, 2021 11:00 AM PST
C.E. CREDITS
NOV 09, 2021 11:00 AM PST
Date: November 09, 2021 Time: 11:00am (PDT), 02:00pm (EDT) Clinical translation of human pluripotent stem cells (hPSCs) requires advanced strategies that ensure safe and robust long-term gro...
JUN 09, 2021 7:00 AM PDT
C.E. CREDITS
JUN 09, 2021 7:00 AM PDT
Date: June 9, 2021 Time: 09 June 2021, 7am PDT, 10am EDT, 4pm CEST cells with dramatic implications on the validity of past cell culture related research. The fact that at least 509 cell lin...
NOV 17, 2021 8:00 AM PST
C.E. CREDITS
NOV 17, 2021 8:00 AM PST
Date: November 17, 2021 Time: 8:00am (PDT), 11:00am (EDT) From waste disposal to promising biomarkers and therapeutic agents, exosomes and other extracellular vesicles are valuable in resear...
SEP 29, 2021 11:00 AM PDT
C.E. CREDITS
SEP 29, 2021 11:00 AM PDT
Date: Septembr 29, 2021 Time: 11:00am (PDT), 2:00pm (EDT) 3D cell models are becoming increasingly popular for studying complex biological effects, tissue functionality, and diseases. While...
JUL 15, 2021 9:00 AM PDT
JUL 15, 2021 9:00 AM PDT
Date: July 15, 2021 Time: 9:00am (PDT), 12:00pm (EDT) The Pisces workflow robust, easy-to-use, end-to-end multi-omics solution for highly multiplexed targeted Spatial RNA analysis. VeranomeB...
Loading Comments...
Show Resources