Monthly Archives: March 2015

Cure Black Bone Disease: Time Is Running Out

A message From Dr Nick Sireau, Chairman and CEO of the AKU Society

Dear friends,

Please could you help with our new fundraising campaign to develop a cure for Black Bone Disease, the rare genetic disease affecting my two boys:

I’d be very grateful if you could contribute and share with friends, family and colleagues please. We’re 78% of the way to our target, with 10 days left to raise the remaining 22%, so please contribute generously!

Any advice on how to improve the campaign would also be wonderful.

Thanks again for all your help. It’s very appreciated.

Kind regards,

Please support our fundraising campaign.

Dr Nicolas Sireau
Chairman and CEO
AKU Society
AdviceSpace, 66 Devonshire Road,
Cambridge CB1 2BL, UK

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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


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

Our new genetic models of aggrecanopathies have arrived……

… part of the SYBIL-funded study to functionally validate genetic determinants of skeletal diseases.

In collaboration with the excellent scientists at Polygene we have generated two novel genetic models of SEMD aggrecan type and osteochondritis dissecans respectively (see papers below).

Thompsonstattin 2009

Both of these mutations were published 6 years ago and we still don’t know anything about the underlying disease mechanisms in vivo.

Our approach of using ‘targeted knock-ins’ has generated genomically-relevant in vivo models  that will provide new insight into disease mechanisms for this fast emerging disease group (#6 in the Nosology and classification of genetic skeletal disorders: 2010 revision).

Watch this space!