skeletal genetics@newcastle university will be participating in two key events for Rare Disease Day 2015
IGMEngagement@ncl.ac.uk and @IGMengageNCL
We will be presenting our best research in genetics and rare diseases, answering questions, engaging in debates and presenting hands on research tables. There are over 7,000 known rare diseases, most of which are genetic.
1 in 17 people will be affected by a rare disease at some point in their lives. This amounts to a staggering 3.5 million people in the UK alone! Genetic research and research into Rare Diseases may not attract much media attention but it is of high importance for the modern developed societies.
Come see us at the Great North Museum on the 27th February 2015 (Rare Disease Day) to learn more
The full programme can be viewed here Genetics Matters 2015 final programme
Drug Repositioning for Fundamental Diseases
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.
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.
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 2002
“Genetics Matters” event for the public
27th February 2015 (Rare Disease Day)
Institute of Genetic Medicine and the Faculty of Medical Sciences would like to invite members of the general public to attend a science packed day centred around the rare diseases and genetic research. Full program will be available shortly.
To register, please click here.
………the 2015 SYBIL Calendar has arrived and is being posted to all those lucky winners
Many thanks to Kasia for designing and printing the calendar and to all SYBILonians for supplying images.
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.
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.