Rare disease translation


A bit of history… Before World War II, Gerty and Carl Cori already researched the carbohydrate metabolism. Their research represented an enormous contribution to the understanding and treatment of diabetes, but also many rare metabolic diseases. They were awarded the Nobel Prize in Physiology or Medicine in 1947 for their discovery of the course of the catalytic conversion of glycogen. (source: Wikipedia)

The question that I am particular interested in is:

Can we drive the rare disease research process towards product development or healthcare innovation, and if so what are important drivers ?

In the interest of patients, but also other stakeholders, better understanding of the dynamics in rare disorder research is warranted as it may provide the right boost to research into currently underserved rare disorders (why each rare disease matters). Ultimately it could lead to the development of the much-wanted therapy or healthcare innovations.

According to Bonaccorsi, biomedical research based on molecular biology, for example oncology or HIV, is characterized by a high rate of growth, divergence, and strong complementarity, and very difficult to manage [2008]. It is already acknowledged that understanding the aetiology of a rare disease, a prerequisite for any orphan drug development, is not only simply the result of a certain scientific output level, but also requires a strong integrated input from various clinical, chemical and biological disciplines.

Difficult to manage it may be, but the current lack of understanding of  rare disease research dynamics doesn’t help. Thus far, bibliometric studies of rare disease research are limited, both in number as well as scope [Leshem et al., 2009; Al-Shahi et al., 2001; Escudero Gómez et al., 2005]. Better understanding of the dynamics in rare disorder research may provide a boost to research into currently underserved rare disorders. Perhaps specific drivers can be identified that will allow some steering of the research and translation process.

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