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Public Attention Focused on Rare Disease

For decades, doctors, patients and caregivers have fought to bring attention to rare conditions. Now it finally seems as if all stakeholders — including industry and academia — are turning their attention to rare disease. As a mother to two children with a rare genetic condition, I’m heartened to see the interest. It is my great hope that all of us can work together towards progress.

There is no question that years of steadfast work, and the attention of the National Institutes of Health (NIH) and U.S. Food and Drug Administration (FDA), have played a role in creating this surge in interest. It is also true that pharmaceutical business practices have begun to look beyond the mass-production models that once buoyed them up. We now know a one-size-fits-all approach to treatment doesn’t work. We can do better with precise and personalized medicines.

The sequencing of the human genome has provided a more nuanced understanding of all diseases. Understanding the genetic underpinnings of disease enables accurate, individually relevant treatments. As we advance in developing therapies for rare conditions, we hope lessons learned will be shared throughout the process, catapulting the field into a future of treatments for many more diseases.

Single-condition solutions are not the answer. It is essential that robust data-sharing occur in all sectors of rare disease research, particularly genetic information, natural history data and even negative results. Rare disease research could, and should, be a model for sharing data from completed clinical trials.

The disease-advocacy foundations that have invested so much time and effort in growing and engaging communities of affected individuals and initiating research will continue to be an important part of the ecosystem in which these advances take place. These are the exemplars of sharing and people-centered research. Once somewhat marginalized, those rare disease organizations, research systems and researchers now feed our vision. They are our answer to alleviating the suffering of individuals and families.

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