The European Skeletal Dysplasia Network (www.esdn.org) is a combined research and diagnostic network for Skeletal Dysplasias.
ESDN @ ISDS in Abli 2007
Context of ESDN
GSDs are an extremely diverse and complex group of rare genetic diseases for which the diagnosis can be difficult to make for the non-expert. The diagnosis of a specific GSD usually involves several types of investigation such as review of the child’s medical and family history, physical examination and radiological evaluation. Moreover, molecular diagnosis plays a pivotal role in establishing the correct diagnosis and in facilitating clinical management, accurate risk assessment and genetic counselling for family members.
ESDN introduced a completely new paradigm in rare disease diagnosis by demonstrating that a trans-national clinical and molecular diagnosis network could dramatically improve patient access to expert diagnosis for GSDs and also increase mutation detection rates.
Reach and significance of ESDN
The European Skeletal Dysplasia Network (ESDN) was one of the first networks of expertise in the field of rare diseases to use information and communications technology (ICT) tools for the purposes of tele-expertise and medical diagnosis.
Since September 2003, ESDN has received over 1600 referrals through the on-line Case Manager and 450 users have accessed the ESDN Case Manager from 45 different countries worldwide.
For example, the following referrals were made in the period 2008-2011 (inclusive) :-
2008 (n=190); 2009 (n=217); 2010 (n=179); 2011 (n=170).
These referrals have come from regional genetics centres in 19 UK cities (190 patients), 20 different European countries (396 patients) and 13 countries outside of Europe (170 patients) including, Aruba (1), Australia (19), Brazil (5), India (74), Iran (3), Israel (14), Malaysia (1), Pakistan (6), Saudi Arabia (35), South Africa (3), Taiwan (6), Turkey (12) and USA (1).
Interestingly, the period 2008-2011 has seen a significant increase in referrals from emerging economies, for example, between 2003-2007 ESDN received 8 referrals from India, which has increased dramatically to 74 during the 4-year period 2008-2011 and confirms that ESDN is providing a solution to an unmet medical need in these countries.
Overall, these data confirm the international reach and impact of ESDN and demonstrate how this network approach has transformed the diagnosis of genetic bone diseases worldwide.
@Manchester, January 2002
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@Ghent June 2002
@Lausanne, January 2003
@Warrenton, August 2003
No photos available