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Joining forces against 10,000 orphan diseases

A Université Laval professor laments the lack of funding for research into promising gene therapies.


A Université Laval researcher proposes creating an international consortium to raise money for the fight against 10,000 “orphan” genetic diseases. Jacques P. Tremblay, a professor in the faculty of medicine at Université Laval and president of the Association de thérapie génique du Québec, is unequivocal: A lack of funding is stalling research into promising gene therapies, which could potentially cure 10,000 hereditary diseases caused by genetic defects. Currently, small private foundations are the only sources of funding, and the money mainly goes toward research on a single disease.

Dr. Tremblay cites the example of the Canadian Association for Familial Ataxias, which funds research on Friedreich’s Ataxia. “The Association gives me $120,000 of its annual budget of $180,000. It can’t possibly do more,” he explains. But developing a gene therapy costs much more than that. The encoding virus needed for gene delivery or correction is created by specialized biotechnology companies and costs over $1 million, not to mention the mandatory toxicology studies and clinical trials that follow.

As a result, promising treatments that have had positive outcomes in mice remain confined to university research labs. Meanwhile, patients are suffering, despite the fact that, as Dr. Tremblay points out, some gene therapies have shown to be highly effective. For instance, Leber’s congenital amaurosis, which causes blindness, can be cured with a single injection of encoding virus.

Joining forces

There are many obstacles to finding funding for these therapies. The rarity of the diseases causes them to be less popular among donors. “Raising awareness in order to raise money for cancer research is easier than it is for, say, Duchenne muscular dystrophy,” Dr. Tremblay notes.

Gene therapy doesn’t exactly spur the interest of pharmaceutical companies, either, which are more interested in developing drugs that will have to be taken (and therefore purchased) over a lifetime than a one-shot cure. In this sense, Canada’s new orphan drug framework has left Dr. Tremblay scratching his head. “It’s an initiative that focuses on drugs, which only reduce certain symptoms. They don’t cure the disease like gene therapies do.”

Hence Dr. Tremblay made an appeal in a recent issue of Molecular Therapy for the creation of an official consortium to raise the awareness of governments and donors of the need to develop gene therapies for these hereditary diseases. His proposal has the support of 50 foreign researchers. The question is: Will anyone listen?

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