One Little Mutation Can Make All the Difference

Taking a targeted approach to studying the human genome could pay off in combating genetic conditions like mental illness and heart disease.

 |  Transcript [PDF]

Biomedical engineer Carl de Boer is taking a different approach to understanding how the genome works. Most groups study the genome itself, but his group makes variations to create and test the effects of new DNA sequences.

“There’s a couple different applications to our work,” says de Boer, assistant professor at the UBC School of Biomedical Engineering.

“One of the biggest ones is in understanding heart disease or autoimmunity or mental illness. So we’ve studied these in great detail now, and we understand the genetics of them quite a bit. And what we’ve learned from the genetics is that much of the genetic cause of these diseases is actually in when and where these genes are turned on, not so much in the genes themselves.”

De Boer uses his experiments to try to understand the genetic codes that cells use to interpret regulatory DNA sequences. By selectively changing the genome, it’s like systematically studying all the mutations that might be behind genetic diseases.

Based on those insights, it could become possible to look at a person’s genome and understand how a particular mutation might affect their health.

“In the long term, now that we understand how this one (mutation) is contributing to disease, we can potentially reverse those changes by targeting either the mutation itself, something upstream of the mutation, or something downstream of the mutation,” adds de Boer.

His group is also working on machine learning approaches to help decipher the large and complex data sets that come from studying the genome. Ultimately this could be a key piece in understanding how inherited genes might lead to increased risk of genetic diseases down the road.

“In 15 years it would be amazing if we had computer models of the cell that could predict essentially everything that goes on in the cell,” says de Boer.

“We could plug in a genome sequence and run it through this cellular program, and it will tell you exactly what that genome sequence is going to produce, potentially going all the way from an oocyte — a fertilized egg — all the way to an organism.”

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