The European Skeletal Dysplasia Network reaches a major milestone….

…..our 2000th referral to the first trans-national diagnostic network for rare skeletal diseases.established_2002_

ESDN (established 2002) was the first ‘network of expertise’ in the field of rare diseases to use information and communications technology tools for the purposes of tele-expertise and medical diagnosis.


A big………

To the people who do all the hard work………..Review Facilitators

And……Radiographic group

Finally…….

ESDN is hosted and maintained pro bono by Certus Technology Associates Limited, our IT partner in several successful EU Rare Disease projects: ESDN, EuroGrow and SYBIL.Certus


Selected testimonials from the last 10 years:-

“Just “thank you” my patients appreciate your work and I wouldn’t manage without you”

“ESDN is a superb service and I whole heartedly recommend it to anyone who needs it”

“I admire your enthusiasm and endeavour of the whole ESDN to help disabled children”

“I am a jobbing clinician that would value access to a specialist service like ESDN as I am not aware that a credible alternative exists!”

“I am a fan of ESDN!”

“Since the service has been established great benefit and important resource to aid understanding of these disorders”

“ESDN is invaluable to our department in South Africa since we have no access to this level of expertise for skeletal dysplasias locally. Information allows us to pass on new knowledge to clinicians within our genetic department as well as to referring clinicians.”

“I think this is an excellent development. We need access to radiological reviews and this is a good way of doing it.”


And for those feeling nostalgic, here is a screen shot of the very first ESDN newsletter from December 20022002 ESDN

Type XXVII collagen – human genetics finally meets mouse genetics

COL27A1

In 2011 Ray Boot-Handford and colleagues published a study looking at the role of type XXVII collagen in the growth plate. The full text of the manuscript is here.

At the time there were no known COL27A1 mutations that caused human disease; however, last month Jacqueline Hecht and her group from Houston published the first human COL27A1 mutation in Steel syndrome in the Puerto Rican population.steel

Whole-exome sequencing identified a homozygous missense variant p.(Gly697Arg) in COL27A1, in a family with Steel syndrome and no consanguinity. The identified variant appears to have arisen as a founder mutation in the Puerto Rican population.