Researcher Uses SVS for Pharmacogenetic Associations for 10 Years

         April 11, 2012

Dr. Julia Pinsonneault is a Research Scientist at The Ohio State University where she works to find biomarkers that guide effective treatment. Published recently in Neuropsychopharmacology, Julia has found success using SVS to find novel associations that move her research forward. Usually managing 3-5 research projects at a time from various cohorts, she found time in her busy schedule this month to chat for a few minutes about her experience with SVS.

Jessica: How did you get into genetic research?

Julia: I was trained as a Drosophila geneticist while I was a graduate student at Yale in Molecular Biophysics and Biochemistry. Mid-way through graduate school my faculty advisor moved to San Diego, and I moved to Ohio State where my husband was offered a faculty position. I continued my graduate research in a fly lab at Ohio State while registered as a Yale student in absentia. For my post-doc I stayed at Ohio State but moved to a different fly lab, and then another one where the funding eventually ran out, and then there were no more fly labs. So I switched to humans.

Jessica: Tell me a little bit about your research.

Julia: I started working at Wolfgang Sadee’s lab ten years ago, doing pharmacogenetics. Clinicians send me their cohort samples’ DNA to conduct genotyping association tests. One of the studies I’m working on now is a group of autistic children with and without ADHD symptoms. They currently have 113 subjects collected over the last two and a half years. My focus is on central nervous system disorders.

Jessica: Once you get the DNA, what do you do with it?

Julia: We use several methods for genotyping, including restriction fragment length polymorphisms (RFLP). After the wet lab work is complete, the data can be analyzed for association.

Jessica: How long have you been using SVS?

Julia: I’ve been using HelixTree [a precursor to SVS] since I began at Wolfgang’s lab 10 years ago; in fact, I was an early beta tester. Back then, it was really fun seeing my suggestions get incorporated into a new release of the product. I haven’t really used anything else for genetic analysis.

Jessica: What is the most important part of SVS for your research?

Julia: The genetic association capabilities in general are the most important – I use the haplotype and LD detection, perform dominant and recessive genotype tests, and conduct regression analysis. I really like that SVS is user friendly. It allows me to do my work easily, simply, and very quickly. If I didn’t have SVS, I’m not quite sure what I’d do.

Read the Case Study featuring Julia on »
…And that’s my (and Julia’s) 2 SNPs.

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