Dravet syndrome is a rare neurological disorder in which children, usually in the first year of life, begin to have seizures followed by developmental delays and cognitive impairment. The seizures generally decline over time but as they age into adulthood some seizure activity usually remains and is often refractory to standard anti-epileptic therapies.

In most cases, the disease is due to a mutation of the SCN1A gene that encodes voltage-gated sodium channels.  Since treatment options are limited, researchers are desperately needed to help these children manage their condition as they grow.

Recently, we talked with Patti Bryant, Director of Research for Dravet Canada about how they established and run their research grant program.

“In 2013, we formed a scientific review committee, that included Charlotte Dravet,” said Bryant. Dr. Dravet is a French clinician who first described the severe form of epilepsy in 1978 that was later named after her in 1989.  Also on the review committee was a Canadian physician, a basic scientist, a geneticist, and a member of another epilepsy group.

One advantage Dravet Canada had in finding researchers (in addition to word of mouth) was that Ms. Bryant works in a medical library so she was able to quickly determine who was working on Dravet syndrome and whether that research was reputable. Fortunately, or unfortunately, there are not that many researchers in Canada working on Dravet syndrome. That, along with word of mouth, made it fairly easy to find the majority of researchers in Canada doing studies involved in Dravet syndrome – from basic Zebra fish studies to small clinical trials.

Every year since 2013, they have awarded researchers with grants to better understand Dravet syndrome. Bryant said, “and every 6 months, they report to us on their latest finding.”

Bryant also noted that they have partnered with Rare Diseases Models and Mechanisms Network to fund research.

“They’re fabulous,” said Bryant. “They do everything. All you have to do is get the check for $12,500 and then they match that with $12,500 of their own. They vet all the applications. You just tell them the molecules or genes you’re interested in and they match your funding.”

Bryant added that the network is great for small rare genetic disorders on a limited budget and staff.

One final bit of advice Bryant gave for small advocacy groups wanting to focus more on research was to use your connections in the community and to attend as many rare disease and medical meetings as possible. Those connections can open new opportunities and stimulate new ways of thinking that you cannot get by staying in your silo.