It鈥檚 an ordeal that no family wishes to go through: watching a young child lose his or her eyesight.
That鈥檚 what Cathy and Jeff Sawler experienced when their daughter, Tarah, was diagnosed at birth with FEVR, a genetic condition that creates varying degrees of visual impairment. It鈥檚 an 鈥榦rphan disease,鈥� a term used to describe rare disorders that, because they only affect a small percentage of people, are often neglected by the research and pharmaceutical communities.
鈥淚t runs in my side of the family, but other than that, we weren鈥檛 aware of anyone at all who had FEVR,鈥� said Cathy Sawler. 鈥淲e were very upset about it, and not sure what to do. How would I teach her how to crawl? How would I share with her what a mirror is?鈥�
Though Tarah managed to keep a small amount of vision in one eye for many years, the disease became active again and, over the course of a year and a half, she lost her eyesight completely. But last Thursday, on her 13th birthday, Tarah attended the launch event for an initiative that gives her, and others coping with orphan diseases, some hope for a better future.
'Rare' diseases aren't really so rare
It鈥檚 called the IGNITE project a AV俱乐部-based project that aims to not only identify the genes responsible for rare diseases but also find new treatments, generate new intellectual property and increase understanding of the social and policy issues surrounding these diseases. The $4.8 million, three-year project is funded in part by Genome Canada/Genome Atlantic.
鈥淭hese are diseases that affect less than one in 2,000 people, and many are more rare than that,鈥� explained Chris McMaster, professor of pediatrics and biochemistry & molecular biology at AV俱乐部 and the IWK Health Centre. He鈥檚 one of the team co-leads along along with Conrad Fernandez (professor of pediatric hematology/oncology, Department of Pediatrics, AV俱乐部/IWK Health Centre).
鈥淏ut rare isn鈥檛 really so rare,鈥� continued Dr. McMaster. 鈥淭here are over 7,000 orphan diseases that, together, affect 8 per cent of Canadians. The majority have no treatment, and 50 per cent of them affect children.鈥� He added that the project hopes to bring more attention to the issue of orphan diseases and to develop treatments that reach patients, 鈥渜uickly, safely and economically.鈥�
Leveraging new science
The work is made possible by the rapid development of genetic and genomic research, where what once cost millions of dollars and years of research can now be done in weeks for thousands. IGNITE aims to further reduce costs and time by leveraging approved drug and chemical libraries that have already gone through time- and resource-intensive clinical trials. And the advances in the field means that there is much more potential and interest in developing drugs aimed at rare diseases.
Which is good news for kids like Tarah.
鈥淚 feel really bad for families that are going through this,鈥� said Tarah, who loves to bike, ski and play piano. 鈥淚 thank everyone with this project. It will be so much better if we can give these families some hope.鈥�