Dr. Nathalie Bérubé
Seeking Genetic Link to Developmental Delay
When Dr. Nathalie Bérubé was researching aging and prostate cancer early in her career, she had no idea that work would ultimately link with her current research into developmental disabilities.
But thanks to recent studies, it appears that the ATRX gene and its tie to developmental delay, which Bérubé has studied for several years, may have links to both the aging process and cancer development.
“So all my earlier training in cancer and aging will help out,” she says.
Such are the delights of scientific research. While researchers can be studying one aspect of genetics, it may also open doors to other ones not previously considered, says Bérubé. “You have to follow the data and go where it leads, and not be afraid of where you haven’t gone before.”
While all research starts with some kind of hypothesis, if that idea isn’t panning out the expected way, scientists need to be open to how data can “lead you to a more exciting place,” she says.
Until recently, Bérubé, an assistant professor in the departments of biochemistry and paediatrics, and her graduate students at Victoria Research Labs at LHSC were making strides in understanding how the ATRX gene could affect brain development in neo-natal infants.
Currently, Bérubé’s lab is helping to advance new understanding about how mutation in the gene can lead to severe cognitive deficits and various developmental disabilities, such as mental retardation syndrome, seizures, and smaller brains. They’ve learned the structure of chromatin, the spools of protein and DNA that make up chromosomes and control how genetic information is read in a cell, plays a key role in normal development. Several diseases, including Rett syndrome, have been linked with abnormalities in chromatin.
Bérubé says the immediate goal of her research isn’t necessarily to cure intellectual disabilities, but to understand it. “We’re still very much at the beginning and trying to get answers on what kind of molecules and chromatin structure can cause brain abnormalities.”
Bérubé, who spends her time outside the lab raising two daughters, has no specific timelines on where her research will be in the next few years. She notes the field of epigenetics is changing so quickly with new publications every month, which can mean having to rethink approaches from time to time. “We’re just trying to keep up with what’s going on right now.”
But a changing field has a plus side too according to Bérubé, who has to keep pace with a wide range of areas such as brain development, gene structure and chromatin structure, “It’s a challenge but it’s very exciting at the same time.”
"If an idea isn't panning out the expected way, scientists need to be open to how data can lead to a more exciting place." - Dr. Bérubé