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:
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