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Rare Diseases

The Future of Rare Disease Depends on More Than Just Science

In May, Novartis’ subsidiary AveXis won U.S. Food and Drug Administration approval to market Zolgensma, its potentially curative, one-time gene therapy for a rare and fatal disease: spinal muscular atrophy (SMA) type 1.

SMA type 1 is one of thousands of rare diseases. In the United States, any condition that affects fewer than 200,000 people is considered to be a rare disease. According to the National Institutes of Health (NIH), there are an estimated 7,000 rare diseases, about 80 percent of which have an underlying genetic cause.

More than half of these conditions affect children and many of them are deadly. About 30 percent of children afflicted with a rare disease will die before the age of five.

Improving the lack of treatment options

Despite the considerable progress that has been made in understanding rare disease, about 95 percent of the rare diseases that have been identified to date are without an approved treatment today. About 30 million people in the United States and 400 million people globally suffer from a rare disease.

The convergence of information technology and biotechnology, the movement of low-cost sequencing into clinical use, and the incorporation of artificial intelligence throughout the rare disease continuum are accelerating improvements to research, diagnosis, and care for patients.


The proliferation of low-cost wearable sensors and cameras has transformed smartphones into ubiquitous tools that can be harnessed to monitor patients with chronic conditions, and the emergence of regenerative therapies to not only treat, but functionally cure rare genetic diseases, has fueled new hope among rare disease patients for a brighter future in which they may be free of their conditions.

The challenges ahead

While science and technology are propelling advances in the rare disease space at a rapid pace, the ability to fully capitalize on the opportunities before us will depend on how well society is able to address a range of issues outside the realm of science.

Though scientific challenges remain, there are financial, policy, and man-made barriers that arise when large numbers of organizations and individuals with competing interests try to address complex problems. What was true in the past will be true in the future. The greatest success will come when people work together toward common goals.

As Christopher Austin, director of the National Center for Advancing Translational Sciences at the NIH, said in the newly issued Global Genes’ report, “Next: Imagining the Future of Rare Disease,” half of the failure of translating science into treatments is science and the other half is social science, involving things such as human behavior, organizational behavior, and incentives. “We need to innovate in both,” he said.

Austin said the biggest challenge is in getting all of the players, including the patients, to realize that they may be more productive, not only for themselves but for everybody else, by focusing on the similarities among the diseases rather than the differences.

“We have a view of rare disease research — everything from basic gene discovery to applications of these drugs in the community — in a much more global, holistic way. When we look out at the landscape, it is blindingly obvious to us that they are the same problems,” said Austin. “We look across these problems in disease after disease and patient group after patient group. They all think that it’s different. We as human beings emphasize the differences. That’s is the secret of our demise.”

To read the full report, please visit

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