What does it take to establish new treatments for rare diseases?
One in seventeen people lives with a rare disease, meaning collectively they are common, if individually rare. Commitments to improving the lives of those affected seek not only to expedite diagnosis, but also to improve access to condition-modifying treatments and clinical trials. This is not an insignificant aspiration given there are eight thousand rare diseases. Innovations in molecular diagnosis have led to a better understanding of the underlying causes, the mechanisms involved and the downstream consequences of disrupted pathways upon phenotypes. This also provides invaluable insights into potential strategies for new therapies. The webinar will highlight the multiple steps required to develop new treatments for rare diseases, provide examples of illustrative clinical trial studies, explore new methodologies, such as cell-based therapies, and look towards the future for emerging opportunities to transform the lives of those affected by rare genetic disorders.