Dr. Johane Robitaille

Dr. Johane Robitaille

Dr. Johane Robitaille

Genomics , Neuroscience

Keeping an eye on genetic diseases:
Dr. Johane Robitaille uncovers genes in search of therapies for inherited eye disease

For 20 years, pediatric ophthalmologist Dr. Johane Robitaille has been on the hunt for genes that cause FEVR (familial exudative vitreoretinopathy). This genetic disease triggers disordered blood-vessel growth in the eye, often leading to visual impairment or blindness.

“We found the first gene for FEVR and published our discovery in Nature Genetics in 2002,” says Dr. Robitaille, who has since discovered four more FEVR genes working with families across Canada and in the United States, England, Saudi Arabia, Finland, Iran and Australia. “Now we’re using these genes to create zebrafish models of FEVR.”

Dr. Robitaille is working closely with two leading Dalhousie researchers—zebrafish expert/pediatric oncologist, Dr. Jason Berman, and geneticists/drug development scientist, Dr. Chris McMaster—to identify and test potential therapies for FEVR.

At the same time, she is continuing her search for more genes involved in the disease. 

“With the new technologies we have today, we are able to go back to the families we’ve been recruiting for all of these years and re-analyze their genetic information to identify more genes involved in the disease,” she says. “The challenge is to analyze this huge volume of complex data.”

Dalhousie is internationally known for its expertise in bioinformatics—the use of computer algorithms to rapidly analyze vast quantities of data—but, as Dr. Robitaille notes, there are not yet enough people trained in this vitally important field to meet the need. She and her team are looking forward to the launch of the new Genome Informatics Training Program, to be funded in part through Dalhousie Medical Research Foundation’s 2018-19 Molly Appeal.

“Our work will progress much more quickly with increased bioinformatics expertise,” Dr. Robitaille says. “Identifying more genes gives us more tools for diagnosing patients with FEVR and more targets to develop therapies.”

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