…………………to an ongoing project
Answer to follow
Available as open access here
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: http://igg.me/at/curebbd.
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.
Dr Nicolas Sireau
Chairman and CEO
AdviceSpace, 66 Devonshire Road,
Cambridge CB1 2BL, UK
“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.”
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).
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!