Building treasures for rare disorders.


The internet pre-eminently marks an era with unprecedented chances for patient care. Especially individuals with rare disorders and their families can benefit. Their handicap of low numbers vanishes and can become a strength, as small, motivated and well-organized international support groups allow easily fruitful collaborations with physicians and researchers. Jointly setting research agendas and building wikipedias has eventually led to building of multi-lingual databases of longitudinal data on physical and behavioural characteristics of individuals with several rare disorders which we call waihonapedias (waihona meaning treasure in Hawaiian). There are hurdles to take, like online security and reliability of diagnoses, but sharing experiences and true collaborations will allow better research and patient care for fewer costs to patients with rare disorders.

DOI: 10.1016/j.ejmg.2014.10.006

Cite this paper

@article{Baas2015BuildingTF, title={Building treasures for rare disorders.}, author={Melanie A M Baas and Sylvia Huisman and John van Heukelingen and Gerritjan Koekkoek and Henk-Willem Laan and Raoul C. M. Hennekam}, journal={European journal of medical genetics}, year={2015}, volume={58 1}, pages={11-3} }