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Message us, or see the news section in Notes for contributors.
Sponsor our cyclists on Prudential RideLondon Event.
On Sunday 4 August follow our cyclists around the 100 mile RideLondon course – download the free app to your iOS or Android smartphone.
Great success for walking course and children’s event.
The Walking with McArdle’s course, and the Children & Parents event, were a great success in the Pembrokeshire National Park, Wales.
Vitaflo launch a new resource for liver GSDs.
GSD and Me – Vitaflo have launched a new website resource for five of the most common liver GSDs – 0, 1, 3, 6 and 9.
Family Fun Day at Royal Victoria Infirmary, Newcastle.
Children and families from North East England got together for a Family Fun Day at the Royal Victoria Infirmary, Newcastle.
BMJ journal publishes education and practice notes on CK.
BMJ journal “Archives of Disease in Childhood” publishes education and practice notes on Creatine Kinase, including its role in signposting GSDs.
McArdle Disease Handbook reaches 30 countries.
Recent sales in Eastern Europe and the Middle East mean “The McArdle Disease Handbook” has reached patients and professionals in 30 countries.
Buriton Art Trail raises £400 for AGSD-UK.
Hampshire village of Buriton holds art-trail for local artists to showcase their talents, and raises £400 for AGSD-UK.
Journal reviews progress on gene therapy for GSDs.
A paper in the journal “Human Molecular Genetics” reviews the development of gene therapy for glycogen storage diseases.
Dylan’s idea to help his friend leads to breakthroughs.
“So Chocolate Bar” – 6 years later and one boy’s idea to help his friend with GSD1b is leading to scientific breakthroughs.
Collaboration boosts prospect of GSD3 therapy.
Ultragenyx and Arcturus announce expansion of their research collaboration to develop gene therapies for rare diseases.
In case you missed these web site developments.
We have introduced a number of new features on the web site this year. Here is the low down.
Amy’s school Fun Run for her brother Eric.
Twin boys born with GSD1a and 8 year old big sister Amy organised a school Fun Run to help fund research.
Big leap forward in genetic diagnosis of rare diseases.
Under a plan by the NHS Genomic Medicine Service, genome sequencing is set to revolutionise the diagnosis of rare childhood conditions.
Invitation to young people with a rare condition
The Royal College of Paediatrics and Child Health invites young people to network with each other, support groups, medical professionals and policy makers.
More personal stories wanted
AGSD-UK is appealing for more personal stories from all the GSDs. There is great value in the the stories for those who are newly diagnosed.
Camps available: Children’s Liver Disease Foundation
Dates for 2019 – families with children affected by hepatic GSDs can access children’s camps through the Children’s Liver Disease Foundation.
Gene therapy updates due at our 2019 conference
Dr Guiseppe Ronzitti, a group leader at Généthon, confirmed to speak on gene therapy developments for GSDs at our 2019 conference.
Save the date – IGSD2019 conference, Brazil
The 5th International GSD Conference will be held in Porto Alegre, Brazil, over 14 to 16 November 2019. Registrations now open!
Bladder control survey for GSD2 and GSD5
Manchester Metropolitan University is investigating how bladder problems affect quality of life in neuromuscular conditions, including Pompe and McArdle’s.
Insight to variability of onset in Pompe
”Pompe Disease News“ reports on a new genetic variant which may help explain the variability of symptom onset in Pompe disease.
Neuromuscular Centre Open Day on 20 June
The Neuromuscular Centre at Winsford, Cheshire, is holding an Open Day on Thursday 20 June. Of special interest for muscle GSDs.
AGSD-UK hosts workshop to develop hepatic guidelines
In May AGSD-UK facilitated a meeting of UK metabolic specialists to discuss guidelines for management of hepatic GSDs.
Debut performance of new harp by GSD5 patient
Sioned Williams to give debut performance of new instrument, the Soveida Harp, which articulates its sound in eerie stereo.
IamGSD’s Global Walking Week starts 20 May
Every year people with muscle GSDs, particularly McArdle’s for which the most effective treatment is physical activity, participate in this walking week.
Are statistics your thing?
We‘ve been improving our database and ensuring GDPR compliance. We are now starting to have fascinating insights into our statistics.
Get-togethers on International Pompe Day
Thanks to the Pompe Support Team and other hosts, successful get-togethers were held around the UK to celebrate International Pompe Day.
Glisten Spring 2019, out now!
The Spring 2019 edition of our magazine Glisten is out now, 60 pages packed with news and information.
Do you feel no-one has heard of GSD?
That is what member Niamh, who has GSD3, thought until she got a shock as she completed her GCSE Biology exam.
New infographic helps celebrate International Pompe Day
For International Pompe Day on Monday 15 April, Amicus Therapeutics UK have released a new infographic leaflet/poster.
CATS first birthday get together
Saturday 30th March saw the CATS team celebrate their successful first year with a get-together with GSD3 friends.
Nursery adopts Jeans For Genes to fundraise for AGSD-UK
The Wendy House Nursery in Erdington, Birmingham, has signed up for ‘Jeans for Genes’ in 2019 to fundraise for AGSD-UK!
Hackney Youth Awards first prize winner
AGSD-UK member Abdullah Amerat won first prize in London’s Hackney Youth Awards, recognising his achievements in his local community.
Baroness Walmsley to open conference
Baroness Walmsley, Liberal Democrat Deputy Leader in the House of Lords, is to open our annual conference. 5 & 6 October. Reservations now open.
NextGen project for young people at Metabolic Support
Metabolic Support UK launches NextGen project for teenagers and young people with metabolic conditions, including Glycogen Storage Disease.
We are recruiting a CEO
AGSD-UK is seeking to recruit a Chief Executive Officer, a senior manager looking for a rewarding move within the charity sector. Closing date extended to 10 May.
World Record at Evelina GSD Family Day?
Maybe a World Record, new friendships, knowledge and reassurance for those affected by GSD at the Evelina Hospital’s GSD Family Day.
FDA grants Breakthrough Therapy Designation to Amicus
The U.S. FDA has granted Breakthrough Therapy Designation to Amicus’ AT-GAA in Late Onset Pompe Disease.
Cori the Supercat rides again!
Cori is a cat, with lots of kitten friends. He is on a mission to support children with GSD3.
Pilot of new website reaches over 2,000 people
Following great feedback, we are now going public – announcing the new website to professionals, industry, funders, etc.
AGSD-UK member Charlie Power is now famous!
Charlie appeared in the newspaper of the Queen Elizabeth Hospital Birmingham. Here is his story, reprinted from news@uhb.