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Genetics Researcher Joins DACCPM

Although human genetics researcher Richa Saxena has just joined the Department of Anesthesia, Critical Care and Pain Medicine, she's no stranger to Mass General.

Richa Saxena, PhD
Dr. Saxena got her undergraduate degree in biochemistry, did PhD work in David Page's lab at MIT, and started at Mass General in 2003 as a post-doctoral fellow, working with David Altshuler in the Department of Molecular Biology and the Broad Institute to apply newly emerging genome-wide association approaches to study type 2 diabetes.

Now, as a DACCPM researcher, she'll study the function of new type 2 diabetes genes she discovered, and apply these tools to new disease areas.

"When I started, there were only two genes known [for type 2 diabetes]. We've contributed now to finding about 30 genes for type 2 diabetes," she said. "The whole field of complex trait genetics has actually exploded [since then] because of advanced technologies and analytic methods. So it's been a really great time."

Dr. Saxena first became interested in genetics when she worked as a technician for Harvard researcher Dr. Gary Gilliland, who was studying a family in Maine that tended to develop leukemia.

"Some of the kids would have a tendency to bruise, and the ones who would have a tendency to bruise would, by their mid-40s, end up having leukemia," she said. "We tried to map the gene, and I just got hooked on genetics."

As her first DACCPM research project, she will follow up on two genes she identified in type 2 diabetes, focusing on how genes in circadian pathways influence metabolism.

"It's known in large studies that people who do night work or people who don't sleep very well have a much higher risk of heart disease and metabolic disease later in life. There's something very basic about it that's totally unknown, so that's part of what I'm going to be studying," she said.

She will also investigate the genetics of preeclampsia, a common disorder of pregnancy, with Drs. Brian Bateman and Lisa Leffert, as well as the genetics of sepsis with Drs. Jeanine Wiener-Kronish and J. Perren Cobb.

"[The sepsis project] is interesting because we plan to look at the genetics of the person's response to bacterial infection and at the genetics of the bacteria themselves," she said.

In the future, she's hoping to use data from patients in the operating room to look at variations in their responses to anesthesia, medication and other factors.

"It's like the OR becomes a lab. We'd like to use all the measurements that people are making to understand variation and predict response," she said.

Patience is a virtue when it comes to research, she said.

"With diabetes, we started in 2003, and it wasn't until 2007 that we actually started to find the new genes. It turned out we had much better tools so that we could look at the genes much more systematically than we used to before," she said.

Dr. Saxena said she's excited to conduct research within DACCPM.

With the new advances in technology, "it's almost like this is the time you can start just thinking about new things to try," she said. "It's really like a playground."

Related Links

Faculty profile: Richa Saxena

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