Why Rare disease matters

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 (400bc)

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 the 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, I view the rare disease space as a Labyrinth. Like Theseus, rare disease patients, but also academia and industry, are all trying to find the right way forward. However, each patient group encounters 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.

Basically, each patient group is in need of a different skein of thread that will allow it to effectively improve its situation. My aim is to contribute to a better understanding of the translational process from research into product development or healthcare innovation. Hopefully this will provide some patient groups “a skein of thread for  to move forward”.


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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