The Importance of Researcher Involvement in the Rare Disease Community

Alexy V. Pshezhetsky, Ph.D., professor at CHU Ste-Justine, University of Montreal. sits down with Rare Disease Report at WORLDSymposium to stress the importance of researcher involvement throughout the rare disease community.

Pshezhetsky: I think if you just work in the lab and, for you the disorder is just a change of nucleotide to nucleotide then it’s difficult for you to understand urgency and the importance of what you are doing. Only after I started communicating with the patients because we found the gene PSC3 in 2006 and then after we’re published, a mother of one of the patients, she called me and asked how could I help. And since after that we are communicating and first of all the parents and the organizations they can help to fundraise, they can fund the research. Often, it’s critical because it’s difficult to obtain funding from the beginning because you need preliminary data and the seed funding from foundations helps to get this data.

It’s like in the summer we had some patients, we had some families in Montreal for the convention and I organized the barbeque and invited my lab members and patients where their families were there. So, my students who work with this could really see children affected and understand how it’s important.

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