Challenges and Opportunities for the Use of Biomarkers of Rare Genetic Diseases

Abstract

Rare genetic diseases are a general classification of some 6000 disorders impacting millions of people. Most rare genetic disorders are life threatening or have a serious impact on the quality of life, often requiring lifelong medical intervention and support. Despite the large number of rare genetic diseases, relatively few drugs have been approved (approximately 400). The challenges facing developers of treatments for rare diseases are multiple. Surrogate biomarkers for rare diseases hold great promise to enable successful drug development, long term management of disease and patient empowerment. Rare disease drug development is often challenged by a lack of scientific knowledge about the disease, small patient populations, expensive trials, regulatory hurdles, and high cost of commercial failure. However, great opportunities exist for the treatment of rare diseases. Large and small biopharmaceutical companies have proven that developing and marketing treatments for rare genetic diseases is viable. Bioanalytical tests have been developed for many disorders; new technologies for hand-held, self-administered tests are within reach. Monitoring devices and healthcare networking applications are ideal for enabling successful treatments for people suffering from rare genetic diseases.