Rare and orphan diseases have a significant impact on both the sufferer and their loved ones. With many being inherited conditions there are often wider implications for the patient’s families to be considered. In the past treatments for these diseases have typically been to alleviate the symptoms of disease rather than the underlying cause. With the advent of the genomic era, real, transformative medicines are now becoming a reality for the first time with the prospect of patients and their children being freed from the devastating effects of these illnesses.
In areas that are often under researched, our real-world evidence provides insight into the burden of living with rare diseases, as well as the unmet needs of these patients. We can establish healthcare resource utilisation to greater understand the societal impact that new transformative treatments may have.