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How a Personalized Approach to Treatment Could Offer New Hope for Rare Disease Patients

Photo: Courtesy of Daan Stevens

Peter L. Saltonstall

President and CEO, NORD

There are 30 million Americans afflicted with rare diseases. That’s roughly 1 in 10 people; more than those with HIV, heart disease, and stroke combined. Of the 10,000 known diseases, 7,000 are considered rare, meaning they affect fewer than 200,000 people.

Over the last decade, more than 230 new orphan drugs were approved by the Food and Drug Administration (FDA) to treat rare diseases, bringing relief to many patients in urgent need. However, families receiving a rare disease diagnosis still face a 95 percent chance that there aren’t any treatment options and little to no ongoing research into their disease.

Given the challenges patients still face and recent developments in science, what does the future look like for someone facing a rare disease diagnosis? This is one of the major themes for NORD’s 2017 Rare Diseases and Orphan Products Breakthrough Summit, taking place on October 16-17 in Washington, D.C.

The future of research

The All of Us Research Program (also known as the Precision Medicine Initiative, or PMI), is extremely promising for rare disease patients. This effort, led by the National Institutes of Health (NIH), looks at a person’s genetic makeup to tailor and personalize treatments so that patients are more likely to respond. Approximately 80 percent of rare diseases are genetically based, making the discovery of individual differences in genes, environmental factors, lifestyle, and the identification of individual biomarkers, all the more important. PMI promises that no disease is too rare to be treated.

PMI has heightened awareness of the need for shared data to close the gap between the “haves and the have nots” of treatments in rare disease. We are moving towards a more collaborative environment, where data that is captured will be readily available and continue to accelerate new discoveries.

The pipeline for treatments and cures

With the emergence of PMI comes the development of biotechnology mechanisms which are targeted toward successful gene therapies. Such mechanisms advance the development of immunotherapies to be used to benefit rare disease patients. There is much excitement in the community for the potential of gene therapies to offer cures for patients with rare diseases.

In addition to the new generation of treatments, rare disease patients are increasingly gaining access to known drug therapies through drug repurposing. Thanks to the use of information technology, medical providers and researchers can now predict which drug compounds may safely and effectively be used to treat “new” conditions.

Cures for all rare diseases remain in the future. However, the utilization of current and developing technologies continues to improve treatment statistics for families impacted by rare diseases and brings that future closer.

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