Researchers
Rothermel, Beverly A PHD
UT Southwestern Medical Center
INCLUDE Grants
CRISPR interference to identify HSA21 genes reducing neurogenesis
Grant Number
R21HD118402
NIH Institute
NICHD
Mechanism
R21
Project Narrative
The goal of this proposal is to develop a genetic screen in single cells with selectable markers that can be used
for high through-put, unbiased identification of genes, or combinations of genes, on human chromosome 21 that
contribute to Down syndrome pathologies at the earliest stages of development.
Elevated mitochondrial fusion and function in Down syndrome
Grant Number
R01HD101006
NIH Institute
NICHD
Mechanism
R01
Down syndrome (DS) is a devastating condition that affects over a quarter of a million Americans. We have evidence that mitochondrial metabolism is fundamentally different in individuals with DS in such a way that it increases the risk of cumulative, oxidative damage over time. Here we will use the powerful new tools of CRISPR-Cas9 genomic editing and induced pluripotent stem cells derived from patients with DS to identify the molecular pathways responsible for these changes.
Supplement to: Elevated mitochondrial fusion and function in Down syndrome
Grant Number
3R01HD101006-01S1
NIH Institute
NICHD
Mechanism
R01
Down syndrome (DS) is a devastating condition that affects over a quarter of a million Americans. We have evidence that mitochondrial metabolism is fundamentally different in individuals with DS in such a way that it increases the risk of cumulative, oxidative damage over time. Here we will use the powerful new tools of CRISPR-Cas9 genomic editing and induced pluripotent stem cells derived from patients with DS to identify the molecular pathways responsible for these changes.