Chloe ChristensenChildren's Hospital of Orange County | CHOC · Metabolics
Chloe Christensen
Doctor of Philosophy
About
25
Publications
7,180
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Introduction
As a Scientist II at CHOC Children's Hospital, my research focuses on assessing the efficacy and feasibility of genome editing-based therapeutics for rare genetic pediatric disorders.
Education
September 2015 - May 2021
University of Victoria
Field of study
- Cell and Molecular Biology
September 2010 - May 2015
University of Victoria
Field of study
- Combined Biology and Psychology
Publications
Publications (25)
Although individually uncommon, rare diseases collectively account for a considerable proportion of disease impact worldwide. A group of rare genetic diseases called the mucopolysaccharidoses (MPSs) are characterized by accumulation of partially degraded glycosaminoglycans cellularly. MPS results in varied systemic symptoms and in some forms of the...
Free sialic acid storage disorders (FSASDs) result from pathogenic variations in the SLC17A5 gene, which encodes the lysosomal transmembrane protein sialin. Loss or deficiency of sialin impairs FSA transport out of the lysosome, leading to cellular dysfunction and neurological impairment, with the most severe form of FSASD resulting in death during...
Pompe disease is an autosomal recessive lysosomal storage disease caused by pathogenic variants in GAA, which encodes an enzyme integral to glycogen catabolism, acid α-glucosidase. Disease-relevant cell lines are necessary to evaluate the efficacy of genotype-specific therapies. Dermal fibroblasts from two patients presenting clinically with Pompe...
Pompe disease, an autosomal recessive disorder caused by deficient lysosomal acid α-glucosidase (GAA), is characterized by accumulation of intra-lysosomal glycogen in skeletal and oftentimes cardiac muscle. The c.1935C>A (p.Asp645Glu) variant, the most frequent GAA pathogenic mutation in people of Southern Han Chinese ancestry, causes infantile-ons...
Pompe disease, an autosomal recessive disorder caused by deficient lysosomal acid α-glucosidase (GAA), is characterized by accumulation of intra-lysosomal glycogen in skeletal and oftentimes cardiac muscle. The c.1935C>A (p.Asp645Glu) variant, the most frequent GAA pathogenic mutation in people of Taiwanese and Southern Chinese ethnicity, causes in...
Pompe disease (PD) is an autosomal recessive disorder caused by deficient lysosomal acid α-glucosidase (GAA), leading to reduced degradation and subsequent accumulation of intra-lysosomal glycogen in tissues, especially skeletal and oftentimes cardiac muscle. The c.1935C>A (p.Asp645Glu) variant is the most frequent GAA pathogenic mutation in people...
Free sialic acid storage disorder ( is a monogenic, autosomal
recessive lysosomal disease caused by mutations in SLC17A5.
Sialin the lysosomal membrane transport protein encoded by
SLC17A5 is an exporter of intralysosomal free sialic acid. Abnormal
sialin function leads to lysosomal free sialic acid accumulation.
Clinically, FSASD spans a spectrum...
Background: Sanfilippo B syndrome, or mucopolysaccharidosis type IIIB (MPS IIIB), is a rare lysosomal storage disorder resulting from mutations in NAGLU, which encodes for the enzyme α-Nacetylglucosaminidase (NAGLU). Patients afflicted with this disease experience mild somatic disease symptoms, but severe and ultimately lethal neurodegeneration. Pa...
Ease of design, relatively low cost and a multitude of gene-altering capabilities have all led to the adoption of the sophisticated and yet simple gene editing system: clustered regularly interspaced short palindromic repeats/CRISPR-associated protein 9 (CRISPR/Cas9). The CRISPR/Cas9 system holds promise for the correction of deleterious mutations...
Questions
Questions (2)
We are looking for a reliable and established total genomic DNA extraction protocol for adherent cells on a 96-well plate. Any suggestions?
I'm using the CRISPR/Cas9 gene editing method to target a gene in human iPSCs for mutation correction via the homology directed repair pathway. I want to compare the efficiency of different gRNAs to determine which gRNA will be the best to use for this application. Normally, this can easily be done using a genomic cleavage detection kit or a mismatch detecting endonuclease, followed by visualization of the resulting fragments on a gel; however, the mutation we are trying to correct is heterozygous in this particular patient. Since mismatch endonucleases, such as the surveyor nuclease, are sensitive enough to detect a single bp change, would the heterozygous nature of this SNP lead to a overestimate of the level of cleavage occurring?
Has anyone else come across this issue? If so, does anyone have suggestions for other methods to detect cleavage events?
