Abstract
Coordinated orphan disease research: yes, we can!
Highlights
Research in the field of orphan diseases is confronted with several hurdles
There are many faces to soft tissue mineralization, several of which are captured in pseudoxanthoma elasticum (PXE)
Have a number of genes been identified which are associated with similar phenotypes, such as GGCX or ENPP1, but the variability of the PXE phenotype has triggered the search for modifier genes (Vanakker et al, 2007; Nitschke et al, 2012)
Summary
Research in the field of orphan diseases is confronted with several hurdles. lack of knowledge and insufficient awareness for these disorders among the general public, politicians and yes, often among the medical and scientific community, and limited funding, dispersed research initiatives and seemingly unrelated datasets usually make it more difficult to progress in the understanding of these disorders. With pseudoxanthoma elasticum (PXE) as a paradigm disorder, have been no exception to the rule in facing all of these hurdles. There are many faces to soft tissue mineralization, several of which are captured in PXE.
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