Elizabeth Stofko Barrie, Phd, Facmg Email and Phone Number

• Trained in wet lab procedures, interpretation and analysis for wide testing menu including: karyotyping (constitutional and cancer), FISH, microarray (aCGH and SNP), whole exome sequencing (WES), next-generation sequencing (NGS) panels, Sanger sequencing, microsatellite genotyping, mutation analysis (F2, F5, MTHFR, CF), methylation analysis (PWS/AS), Fragile X testing and DNA isolation• Validated and implemented new tests including: IDUA sequencing and subsequent variant interpretation… Show more • Trained in wet lab procedures, interpretation and analysis for wide testing menu including: karyotyping (constitutional and cancer), FISH, microarray (aCGH and SNP), whole exome sequencing (WES), next-generation sequencing (NGS) panels, Sanger sequencing, microsatellite genotyping, mutation analysis (F2, F5, MTHFR, CF), methylation analysis (PWS/AS), Fragile X testing and DNA isolation• Validated and implemented new tests including: IDUA sequencing and subsequent variant interpretation using ACMG guidelines, and multiple FISH probes for somatic testing• Co-instructor for “Current Technologies” course for genetic counseling students on techniques used to identify and interpret alterations in the genome (INTMED8050) (2 years)• Performed mock CAP/CLIA inspection for two laboratories• Maintained productive collaborations in research and clinical settings Show less

In this role I managed multiple projects, mentored and trained five lab members, and championed the acquisition of genome-wide association datasets for variant validation. This involved writing and maintaining an IRB protocol and corresponding documentation. I then performed data reduction, review, and compilation both on a small scale in Excel, and with large datasets using the Linux environment and the R programming language, while securely storing the data. Utilizing genome browsers and… Show more In this role I managed multiple projects, mentored and trained five lab members, and championed the acquisition of genome-wide association datasets for variant validation. This involved writing and maintaining an IRB protocol and corresponding documentation. I then performed data reduction, review, and compilation both on a small scale in Excel, and with large datasets using the Linux environment and the R programming language, while securely storing the data. Utilizing genome browsers and databases including: UCSC Genome Browser, OMIM, 1000 Genomes, GTEx, HapMap, HaploReg, SNAP, GRASP, and dbSNP, I extracted information on genes and variants of interest. Show less

I was engaged in pharmacogenomics research with the goal of finding biomarkers to improve patient outcomes. In the emerging era of personalized medicine, use of genetic information has vast promise in reducing toxicity, improving efficacy of drug therapy, and predicting disease risk. I identified genetic polymorphisms in dopamine beta-hydroxylase (DBH) with tissue-specific effects on mRNA and cardiac phenotypes. This work was published in a high impact journal and was publicized by the… Show more I was engaged in pharmacogenomics research with the goal of finding biomarkers to improve patient outcomes. In the emerging era of personalized medicine, use of genetic information has vast promise in reducing toxicity, improving efficacy of drug therapy, and predicting disease risk. I identified genetic polymorphisms in dopamine beta-hydroxylase (DBH) with tissue-specific effects on mRNA and cardiac phenotypes. This work was published in a high impact journal and was publicized by the university. Also, I trained and mentored several students, including undergraduates and new graduate students. I streamlined the ordering process, eliminating waste and decreasing lag time for required supplies. Show less

Under the direction of Dr. Amy Hise, I studied the oral bacteria Fusobacterium nucleatum, and found that the host inflammatory response is synergistically mediated through TLR2 and TLR4. In this role, I used primary cultures of murine macrophages and human cell lines in a BSL-2 environment to identify innate immune responses to oral pathogens.

I studied protein crystallization, cryoprotectant properties and developed protocols for high school and collegiate laboratories under the direction of Dr. Eddie Snell.

I performed a proteomic analysis of cisplatin-induced cochlear damage. While this drug is an effective chemotherapeutic agent, it also causes hearing loss, and this study revealed changes in protein expression following drug treatment. This project was performed under the mentorship of Dr. Donald Coling.