Rare diseases are those that affect no more than one person in 2000 over the course of their lifetime. Although each individual rare disease affects a relatively small number of people, there are over 7000 known rare diseases today, with dozens more discovered each year, and when taken as a whole, they affect one in 12 Canadians, two-thirds of them children.
Although research into rare disease treatments was lagging for some time, this situation has been changing in recent years, and it has now come to play an important role in driving innovation within the pharmaceutical industry. If you’re interested in pursuing a career in pharmaceutical research and development, here’s a quick overview to help you understand the role of rare disease research in the field.
New Incentives Have Encouraged Companies to Find Treatments for Rare Diseases
So-called “orphan drugs” are drugs that are intended to treat diseases which are rare enough that sponsors are reluctant to develop them under normal market conditions. This is because developing new drugs can take years of work, from the initial discovery of a promising treatment to its eventual sale on the market, as well as significant financial resources. With a limited pool of potential customers, companies can be reluctant to invest in this time- and capital-consuming process for rare diseases, since they will not be able to recoup their investment.
Governments around the world, however, have been creating incentives for companies to invest in researching and developing orphan drugs to treat rare diseases. The US Orphan Drug Act, for example, as well as similar legislation in the EU, created a range of incentives for companies to create treatments for rare diseases, such as a certain period of market exclusivity, reduced regulatory fees, and even subsidies for clinical trials. This has resulted in a significant increase in research for rare disease treatments, and has driven increased innovation in the sector.
Rare Disease Research Is Pushing Gene Therapy Forward
One of the areas in which rare disease research has been driving innovation is gene therapy. Many rare diseases are linked to a single gene, and advances in gene-editing technologies and gene therapies have given researchers with pharmaceutical research and development training a wider range of options for treating such genetic diseases.
The orphan drug Luxturna, for example, is a treatment for patients with a rare form of retinal dystrophy, developed by Spark Therapeutics and the Children’s Hospital of Philadelphia. Although it is not a cure for the rare condition – which causes progressive blindness – it does substantially improve a patient’s vision, and is the first treatment available. In March, 2018, Luxturna was the first gene therapy product sold commercially in the United States, marking an important step forward in this promising treatment approach.
Help Drive Innovation with Pharmaceutical Research and Development Training
Research into rare diseases can not only spur further valuable research into gene therapy and other novel approaches to treatment, but can also help improve our understanding of the pathophysiology behind similar disorders. By studying the pathophysiology of rare diseases, researchers can also gain insights into more common diseases, which might present differently, but share similarities in terms of their underlying causes.
By completing an R&D pharmaceutical program and joining the industry as a Pharmaceutical Formulation Chemist or Product Development Scientist, you can play a valuable role in pushing this innovative research forward, while assisting in the discovery of new treatments for rare diseases.
Are you interest in pursuing a career in pharmaceutical R&D?
Contact Toronto Institute for Pharmaceutical Technology to learn more about our pharmaceutical research and development diploma program.