Putting STEM to Work: Efficient Gene Sequencing Through Automation

Putting STEM to Work: Efficient Gene Sequencing Through Automation

Thanks to the generous support of Regeneron, River Journal publishes four times a year the on-the-spot report of a River Towns high school science student who is paired with a Regeneron scientist to find out what it’s like to put education STEM at work in the real world.

Edmund Tsou is a junior at Briarcliff High School and a member of Briarcliff’s Science Research Program and National/Tri-M/Rho Kappa/Math Honor Societies. Tsou plays viola in the Area-All State Orchestra, competes in college competitions, and fights in international taekwondo competitions. Photo provided

To this day, my first year Honors Biology course remains both the most challenging course I have ever taken and the one I enjoyed the most during my time atBriarcliff High School. This rigorous course sparked my interest in biology and inspired me to take AP Biology as soon as the course was available in first year. Naturally, when my scientific research professor offered me the opportunity to interview a scientist working atRegeneron Genetics CenterI immediately accepted.

During my visit to the Regeneron Genetics Center, I encounteredChristina Beecher, a research and development specialist, who works to maximize the efficiency of gene sequencing. It aims to perfect and maintain automation to achieve the goal of sequencing as many consenting voluntary patients as possible. With this in mind, the lab sequences exomes, the part of the genome that codes for proteins, instead of entire genomes, a choice that sacrifices some genetic information (mostly deemed irrelevant) to speed up the process. Automation allows the laboratory to process samples overnight, producing more than 20,000 sequenced samples every week. Beechert estimated that with the help of automation, the number of people needed for this process is reduced from 75 to 12. In addition to constantly reassessing and planning the sequencing process to answer the question, “How do we maximize us the number of samples? sequenced?”, Beechert works in the lab to make sure the automation is working properly. Besides research, Beechert says she loves her job because of her amazing team and the people who work with her, as well as a better access to resources such as funding for projects and databases containing various genetic information.

Christina Beechert. Photo provided

Contextualizing its work, large-scale exome sequencing is part of Regeneron’s ultimate goal of understanding the genetic drivers of disease so they can discover and develop new treatments for serious diseases. The first step in developing potential treatments is to determine the drug targets and the effect the treatments must have on the human body to properly treat a disease. By sequencing massive amounts of genetic information from diverse backgrounds, the Regeneron Center for Genetics can make connections between genotypes (genetic information) and phenotypes (observable characteristics through gene expression). They look for specific genetic factors or mutations that describe the disease they are looking for. These particular cases may show a pattern of how a specific expression or mutation in a gene can lead to protection or higher risk for a certain disease. This information is then shared with other branches of Regeneron’s early research to further explore how to mimic or target these genes for potential therapies.

During our interview, Beechert informed high school students who wanted to enter STEM fields that “writing is a skill that a lot of scientists don’t develop, so take some humanities classes and practice communication in addition to STEM course”. I took this advice to heart as I am a perfect example of it as I tend to focus a lot more on STEM related courses and activities at school. Additionally, she told me that successful people know how to study effectively and balance their time wisely. I am honored to have had the opportunity to meet Christina Beechert and learn so much about the field of genetics. I will certainly be inspired by his advice to pursue my career in STEM.

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