Why Rare disease matters

The aim of Rare Disease Matters is to recognize and enhance understanding of the added-value that patients or their carers have in moving forward the translational process from research into product development or healthcare innovation.

According to Greek mythology the Minotaur, a creature half man – half bull, lived in the Labyrinth at the Minoan Palace of Knossos, Crete. King Minos of Crete imprisoned his enemies in the Labyrinth so that the Minotaur could eat them. The labyrinth was such a complicated construction that no one could ever find the way out alive.

Knossos labyrinth on Silver coin

Minos blamed the Athens for the untimely death of his son Androgeus. As retribution he demanded Aegeus the king of Athens to send seven men and women every year to th e Minotaur. To relieve Athens from this obligation, Theseus announced to King Minos that he was going to kill the Monster. Minos knew that even if he did manage to kill the Minotaur, the young man would never be able to exit the Labyrinth. Fortunately, Theseus was aided by Ariadne, daughter of Minos, who handed him a skein of thread, literally the “clue”, that allowed him to find his way out of the Labyrinth.

In a way, the rare disease space can be regarded as a Labyrinth. Like Theseus, academia and industry, are all trying to find the right way forward to improved care for patients suffering from a rare disease. However, each rare disease is associated with different problems and thus are scattered across the “rare disease” Labyrinth. For some rare diseases:

  1. there is no or only little understanding of the disease.
  2. there is considerable understanding of the disease, but there is no translation into product development or healthcare innovation.
  3. translation into product development or healthcare innovation has taken place, but approval or implementation is hampered.
  4. products have been approved, but patient access is hampered.

Increasingly patient groups are providing the skein of thread and thereby facilitate product development and healthcare innovation, which ultimately make a real difference in the lives of patients sufferinng from a rare disease.


2 Responses to Why Rare disease matters

  1. Brian Lovatt says:

    The current focus of the EU Commission group (Ex Rare Disease Task Force) and the 27 + 3 national programmes should be focused on those issues

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