# Ruxanda Rusu

### Ruxanda Rusu

#### First-year Master of Science student in Biochemistry

My family immigrated from Moldova, a small, beautiful country in Eastern Europe between Romania and Ukraine. You might not have ever heard of it-- its population is around the same as that of Toronto's. I lived in Toronto for most of my life until I moved to London, Ontario for my undergraduate studies at Western University. And that's where I fell in love with genomics.

My research consists of sequencing and analyzing patients’ genetic information to figure out what could cause a certain disease. I collect DNA from saliva or blood samples, sequence the exome (the coding region of a person's genome), and try to identify if there are any mutations. I compare the mutations in the patient with a sequenced reference genome of a healthy individual to see if there are any bad mutations in the patient that shouldn't be there. Usually these bad mutations can be linked to diseases.

I like the idea that when you sequence someone's genome, you essentially have that person's 'instruction manual' in your hands. You can think of bad mutations as missing or extra pieces of instructions that are spelled wrong in a build-your-own chair kit. When this happens, there's bound to be something wrong with the structure or function of the chair.

The statistics of the research data is the most complicated, but once you figure it out it's pretty exciting because that's when you see the significance of your results. Without statistics, you can't fully understand whether the information you got from your experiment is actually important. Statistics is the reason we can confidently diagnose a genetic disease based on the presence of a certain mutation in a patient.

To put it into perspective, if 99 out of 100 patients you're looking at have the same mutation AND also have a certain disease, you can say that there is a high chance that mutation causes (or, at least, is associated with) the disease. If, for example, only 1 person out of those 99 people with the mutation has the disease, you can't come to any conclusion because you don't have any significant data. Identifying the significance of the data is only a part of statistics.

I'd like to work with a commercial genetic company in the future. My research gives me a good foundation to understanding the procedures these companies use so that I can identify areas that need to be improved or innovated.

#### How has your research impacted the world?

Genetics is already being used to diagnose diseases and inform better treatment plans for patients. In the not-so-distant future, I expect genetics will be at the forefront of medicine so that sequencing your exome becomes a critical step in creating an individualized healthcare plan for each person. My research will hopefully not only improve treatment options for the family that I’m looking at, but also reveal mutations that can be used to diagnose other diseases in the future.

#### What do you predict will be the next big breakthrough in your field of research?

Scientific knowledge in the field of genetics is like the universe: it is always expanding, and at a very fast pace. With the development of next-generation sequencing, which has significantly reduced the cost of sequencing DNA and made it more accurate, scientists are identifying new mutations or variants nearly every day.

In the field of clinical genomics especially, it’s hard to pinpoint any ‘one’ breakthrough. Each new mutation found to be linked with a disease is a breakthrough. These mutations help doctors understand the symptoms of their patients and offer the best possible treatments to help them.

#### What motivates you to do research?

I did not imagine that I would be doing research, let alone continuing in science. When I started university it just seemed like the obvious next step. It was difficult for me to know exactly what I wanted to do because, though I took all the upper-year science courses in high school, we never really went in depth enough into any one field for me to learn more about it and fall in love with it.

It wasn't until my first year in university that I realized how complex some subjects can get. It wasn't complex in a bad way. It was a realization that in high school we just look at the tip of the iceberg.

The part I like best about research is the discipline. It's a rigorous process from the beginning: finding a relevant topic that principal investigators (PI) would be interested in subsidizing, convincing the PI that this research is necessary, conducting the research using strict protocols, analyzing results using strict statistics parameters, and communicating your results effectively. This discipline in research is the main reason people can trust research results from labs all around the world.