How the Rare Disease Moonshot can unlock science for patients
A guest blog by Magda Chlebus, Executive Director Science Policy and Regulatory at EFPIA
Sometimes the most exciting areas to work in are those facing complex challenges, where the scope for making a real impact is greatest. This is what attracts us to rare diseases, a field where 95% of the 7,000 identified conditions have no approved treatment or cure.
It pains us all to see that most people with rare diseases – many of them children – suffer while they wait for a scientific breakthrough. Indeed, many spend years pursuing a diagnosis, only to find that there are no treatment options for their condition.
However, there is hope. In the past two decades, more than 200 therapies for rare diseases have become available, transforming many lives. At the same time, the profile of rare diseases has come on a long way, thanks to dedicated patient advocacy, increased political awareness, the creation of European Reference Networks, and a strengthening commitment from public and private actors.
Advances in science and technologies, including new diagnostic tools, and new modalities like gene therapy, offer unprecedented opportunities. Nonetheless, there is frustration at the pace of progress; a strong sense that we need a game-changing collective push to break down silos, to unlock science and to catalyse innovation. That’s why we are excited about the Rare Disease Moonshot – a collaboration between players in translational research aiming to boost public partnerships where they can add most value.