Dr. Sara Mostafavi is a new investigator at CMMT and BC Children's Hospital and an assistant Professor in the Department of Medical Genetics at the University of British Columbia. She was recently appointed Canada Research Chair (Tier 2) in Computational Biology. She spoke about how she uses her computer science expertise to develop algorithms that reveal patterns in the large, complex datasets that are becoming increasingly important in health research. The analytical tools she creates are opening up new research lines at BC Children's Hospital and helping scientists uncover the root causes of genetic diseases and developmental disorders. 

What are you working on right now?
Dr. Sara Mostafavi: Technological advances are allowing medical researchers to generate bigger and bigger datasets. For example, examining a single portion of an individual's DNA sequence may require measuring over a million separate features.

We can't use standard off-the-shelf statistical approaches to analyze data this complex, and that's where my work comes in.

I have a PhD in computer science and I develop algorithms that can search through millions upon millions of molecular features and identify patterns.

I'm currently working on a study of the genetic causes of major depression, a serious mental health condition that affects approximately 5 per cent of male youth and 12 per cent of female youth between the ages of 12 and 19. Thus far, scientists have struggled to identify the genetic factors that contribute to major depression, in part because the condition manifests in different ways in different people. In order to account for this variation, we're measuring a number of observable characteristics of depression in multiple individuals and also collecting environmental and genetic data. I'm developing methods for analyzing this data that will hopefully give us new insights into how genetic and environmental factors contribute to different subtypes of major depression.

How will your work help improve the health of children?
SM: Here at the research institute, researchers are collecting data from children over the course of many years as they grow and develop. My computational approaches help researchers combine this data and identify developmental trajectories that are related to genetic and environmental influences. I'm particularly excited about the potential these approaches have to improve our understanding of the causes and progression of developmental disorders.

What drew you to working at BC Children's Hospital?
SM: I was excited about the opportunity to work with so many wonderful collaborators. As a computational researcher, I don't generate my own data, so I need to work closely with other scientists. I've found the researchers at our research institute are extremely open to collaboration and I've been able to form a number of productive partnerships here. I'm able to contribute to how data is collected and generated, rather than just analyzing data on the back end.

Have you been particularly impressed by any of the researchers or research groups you've worked with at BC Children's Hospital?
SM: I've enjoyed working closely with Dr. Michael Kobor's group. They are generating a lot of really interesting data on DNA methylation, a molecular process that results in genes being turned "off." Disruptions in DNA methylation have been implicated in cancer and heart disease. I'm developing computational approaches to identify environmental exposures that can trigger DNA methylation and affect the biological processes that lead to disease.

I've also been really impressed by Dr. Clara van Karnebeek's group and their work on rare genetic diseases. Discovering the genetic mutations that cause rare conditions has a huge impact on the lives of patients and their families. I've really appreciated having the chance to be part of this important work.

You recently moved to Vancouver. What are some of your favorite things about the city so far?
SM: I love being able to enjoy the outdoors so easily. I live downtown, and it's great to be able to walk to Stanley Park and spend several hours enjoying nature. Vancouver is such a walkable city. It's wonderful to be able to go almost anywhere without spending hours stuck in traffic.

Dr. Mostafavi's research is made possible by the support of BC Children's Hospital Foundation.