Science has tended to neglect diseases that affect small numbers of people, but that is changing. Gene therapy in particular has offered a lot of hope to patients and their families in their search for cures, as many genetic diseases are caused by mutations in single genes.
The IMI project ARDAT, which was launched in 2020, looks at problems with gene delivery systems and issues of immunogenicity in order for pharma companies to pre-competitively establish some standards for vector technologies, breaking a research deadlock.
STOPFOP is a project that is searching for a cure for a rare disease called Fibrodysplasia ossificans progressiva (FOP), which affects bone metabolism and is one of the rarest in the world. Meanwhile, we launched a Call in 2020 related to genetic newborn screening because diagnosing rare disease patients as early in life as possible would allow them to get the best care. Deciding on standards for such a screening platform would require all stakeholders around the table, considering not only the scientific challenges but also the myriad of ethical, legal, and public policy questions that surround the topic. This makes IMI, again, the perfect vehicle for this kind of research challenge.
Treating rare diseases: can new business models solve equity of access issues? - By Pierre Meulien, IMI Director