The World Health Organization estimates that 350 million people worldwide have a rare disease. That total would make patients into the world’s third-largest country if they were combined on a single landmass.
For reasons that are unclear, some 50 percent of rare disease sufferers are children. However, because rare diseases are genetic, they can strike at any point in life. Yet those that afflict children not only evoke the greatest sympathy, but they are among the deadliest, killing 35 percent of afflicted children during their first year of life.
RARE DISEASE RESEARCH
While some 95 percent of rare diseases currently have no cure, there is ongoing medical research providing hope. Unfortunately, some rare diseases, termed “orphan diseases,” have no current research going on. This has mostly been attributed to the lack of profit potential in drugs that can present a cure, given the small audience. Drugs take a long time to develop and gain approval from regulators, so pharmaceutical companies focus on potential blockbusters that can sustain the company pipeline.
However, new biopharmaceutical companies are emerging that hope to capitalize on ways to deal with certain rare diseases. Their rise and new breakthroughs in gene therapy offer hope to rare diseases sufferers and their families.
One incentive to work on more orphan drugs is coming from the United States government. The Orphan Drug act of 1983 promised tax incentives and other benefits for pharmaceutical companies that engaged in rare disease research. More than 325 new drugs have emerged since that law was passed.
Also pushing rare disease research is the National Institutes of Health. The NIH Therapeutics for Rare and Neglected Diseases program has created a research pipeline that helps smaller companies work with larger companies and institutes in the effort to find cures for orphan drugs. This new initiative is being overseen by the Office of Rare Diseases Research, part of the National Human Genome Research Institute.