Category: Cellular Technologies

1014-E - Utilizing CRISPR/Cas9 genome editing in human induced pluripotent stem cells to study neuronal diseases

Wednesday, February 7, 2018
11:30 AM - 12:30 PM

Neurological disorders are a health concern since a large percent of the population suffers from it. The chronic disorders comprise a spectrum of symptoms that current therapies only partially ameliorate. Familial, and mouse models have been valuable tools to gain insight into the diseases but do not completely support preclinical efforts needed for drug development. More effective and predictive models are needed to develop new therapies more reliably and economically. Recent advancements in the genome editing and stem cell field make it possible to establish disease-relevant in vitro models. Human induced pluripotent stem cells (iPSCs) can be differentiated into numerous cell types and in combination with CRISPR/Cas9 genome editing can provide new ways to study the pathophysiology of the brain in vitro. In this study, we utilize an iPSC line that stably expresses the Cas9 nuclease protein to efficiently introduce the disease-linked mutations. We derived neuronal progenitors and neurons from the normal and mutant lines to perform functional and phenotypic assays. We thus provide a series of tools that can be used to develop iPSC-derived disease models and high-throughput in vitro neuronal assays that are amenable to both drug-screening and functional genomics platforms.

Raquel Vega

Scientist III
carlsbad, CA

I joined the Cell Biology Custom Services group at Thermo Fisher Scientific in 2014. Previously worked at Vala Sciences developing a CardioTox screening platform in joint collaboration with Burnham Institute. With more than 20 years in science, my career has focused in genetics and genomics, particularly assay development for new technologies. Previous companies had been Sequana Therapeutics, Sequenom and Novartis. Received a B. S from University of California in 1994