Rare Diseases

Despite the name, 30 million Americans, about 1 in 10, are living with a rare disease.1 Of the approximately 7,000 rare diseases that have been identified, only 5% have an approved treatment.2

However, rare diseases also represent an area of great recent progress. In 2015, the second consecutive record year for rare disease drug approvals, 47% of new drugs approved were for rare diseases, including:

  • 8 first-in-class treatments representing entirely new ways of treating disease
  • 5 new medicines for pediatric patients, and
  • 11 new cancer therapies.3

In addition, the impact of rare disease research can go far beyond the individuals it directly helps. By gaining a greater understanding of human biology and disease pathology, of the human genome and how diseases work at a molecular level, scientists are gaining insight that can lead to solutions for much more common conditions.

Current drugs and therapies that are showing promise for rare diseases include small molecule medicines that can treat cystic fibrosis; RNA disruptors that can destroy the production of unhealthy genes and gene therapies that have been effective against rare blood disorders and metabolic diseases. In all, there are more than 560 medicines currently in development for rare diseases.4

  1. https://globalgenes.org/rare-diseases-facts-statistics/
  2. http://phrma.org/sites/default/files/pdf/medicines-in-development-report-rare-diseases.pdf
  3. http://phrma.org/sites/default/files/pdf/medicines-in-development-report-rare-diseases.pdf
  4. http://phrma.org/sites/default/files/pdf/medicines-in-development-report-rare-diseases.pdf