An alumnus of the GSC and professor at Stanford University who is paving the way towards our understanding of rare variants and gene expression, Dr. Montgomery is one 16 speakers that will present at the GSC’s 20th Anniversary Symposium, November 21, 2019. 

Stephen MontgomeryAs an undergraduate student studying electrical engineering, Dr. Montgomery was curious about how he could use engineering tools and knowledge to improve human health. He had the opportunity to explore his options while working at BC Cancer for Dr. Aly Karsan.

“Aly identified me as someone who was interested and motivated, but didn’t really understand genetics, genomics or DNA,” says Dr. Montgomery, “He was kind and patient enough to explain these topics to me.”

This piqued his interest in genomics, so when Dr. Steve Jones offered him a position as a PhD student in his laboratory at the GSC, he took a couple genetics courses and accepted. Dr. Montgomery entered genomics at an exciting time, having the opportunity to witness the technological developments and the rapid evolution of the field.

“The GSC gave me a jump start to my career,” says Dr. Montgomery, “Training at the GSC not only got me really excited about science, but it gave me the exposure to genomics and genetics technologies which I have taken forward in my career.”

Following his PhD, Dr. Montgomery worked as a post-doctoral researcher at the Wellcome Trust Sanger Institute in Hinxton, UK and the University of Geneva in Switzerland. In 2011, he accepted a faculty position in the Departments of Genetics, Pathology and, by courtesy, Computer Science at Stanford University.

His research, which is consistently published in high-impact journals and has been featured on the cover of Nature, is focused on how gene expression works. His lab has collaborated within multiple teams and consortia advancing the use of functional genomics to interpret the mechanisms of genetic disease.  This has culminated in contributions to multiple studies that have elucidated how genetic variation influences gene regulation and expression in individuals, populations, tissues and environments. His lab has further pioneered novel approaches for detecting rare variants impacting gene expression and human disease. This work is providing new means to detect important genetic risk factors in individuals with rare genetic diseases.

At the GSC’s upcoming 20th anniversary symposium, Dr. Montgomery will present his work on using gene expression patterns to identify rare variants that may impact disease.

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