Frank and Irene Green from Altrincham for years have decorated their home with festive lights, this year raising money for AGSD-UK.
On this UN International Volunteer Day of 5th December, AGSD-UK asks “Could you volunteer to join our web team?”
Rowena Barnard has taken on managing AGSD-UK’s social media, on a volunteer basis, and it has sprung into life.
Gary Thompson sends some photos he took of the fun and the business at our Annual Conference and AGM over 5/6 October.
We mark the passing of Dr Clive Tonks in his mid-eighties. He was a past trustee and committee member of AGSD-UK.
New information and videos – past, present and future of gene therapy from the American Society for Gene and Cell Therapy.
A painting of the Pembrokeshire coast, by Edd Bush, was presented to Andrew Wakelin at our conference in October.
For the AGSD-UK Family Day at Great Ormond Street, lots of families came along and friendships and support networks were created.
Neil Bradbury, our newly appointed Chief Executive Officer, introduces himself to our membership, and gives an insight into his plans.
Development of services from Genomcs England continues apace, with the launch of a trial of whole genome sequencing for newborn babies.
Plenty of medical and technical words are used in our website, but help is at hand with our on-line interactive glossary.
Ismail lives with Infantile Onset Pompe Disease. Aged 19, his abiding passion is football. He plays using an adapted wheelchair.
The 5th International GSD Conference (IGSD2019) takes place in Porto Alegre, Brazil, from 14 to 16 November 2019.
Minister at Dept. of Health and Social Care announces a national conversation to understand how to improve care for rare diseases.
Southeastern Trains are planning to trial a scheme next year to help passengers with hidden disabilities, which could include GSD.
Three trustees retired at the AGM, so the board is now down to four members and it is actively seeking new trustees. Can you help?
A phenomenon identified on AGSD-UK’s walking courses has been presented in a poster at the World Muscle Society Congress.
Recent papers: one on genetic testing for high CK, a GeneReviews update on McArdle’s and a review of gene therapy in GSDs.
As Allan Muir leaves AGSD-UK, we try to capture in words what he has achieved for the UK and international GSD community over his 28 years of involvement.
The AGSD-UK office has now moved from Droxford, near Southampton, to Chester le Street, near Durham. The phone number stays the same.
Routine bookings for the AGSD-UK Annual Conference, 5/6 October, are now closed. But we can still easily accommodate day delegates and possibly a few residential packages.
AGSD-UK is seeking someone to fill the role of Communications Manager with responsibility for our website and social media.
A new paper reports on the amelioration of disease through delivery of gene therapy in the mouse model of McArdle disease.
In 2011 AGSD-UK ran a week-long walking course for people with McArdle disease. It has spread to four countries so far.
Would you like to meet other GSD patients? What do you think of small sticky labels with the AGSD-UK tree logo for use in clinic?
Are you facing difficulties accessing your treatment? Please complete this survey by 30th September 2019 to enable Eurordis to collate experiences.
Reserve your places now! AGSD-UK Conference 2019, Daresbury, Cheshire. Here are details of the expected presentations and workshops.
AGSD-UK supported Findacure’s networking event on rare diseases in Cambridge, represented by Gemma Seyfang of the Pompe Support Team.
Families attending Great Ormond Street or Birmingham Children’s hospitals are welcome to come along to family days this autumn.
A new series from Netflix, in which a doctor crowd-sources diagnoses for mysterious medical conditions, opens with a story mentioning GSD.
Keep up-to-date – AGSD-UK now posts to Twitter the intro to our news stories, with a link to each full story.
AGSD-UK supports Genetic Alliance UK in establishing a Cross-Party Group in the Welsh Assembly to support patients with rare, genetic conditions.
There is now a private option for Creatine Kinase (CK) blood tests, with blood taken yourself at home and posted to the lab.
In line with AGSD-UK’s strategic plan and succession planning, we are pleased to announce the appointment of a Chief Executive Officer.
On Sunday 4 August follow our cyclists around the 100 mile RideLondon course – download the free app to your iOS or Android smartphone.
The Walking with McArdle’s course, and the Children & Parents event, were a great success in the Pembrokeshire National Park, Wales.
GSD and Me – Vitaflo have launched a new website resource for five of the most common liver GSDs – 0, 1, 3, 6 and 9.
Children and families from North East England got together for a Family Fun Day at the Royal Victoria Infirmary, Newcastle.
BMJ journal “Archives of Disease in Childhood” publishes education and practice notes on Creatine Kinase, including its role in signposting GSDs.
Recent sales in Eastern Europe and the Middle East mean “The McArdle Disease Handbook” has reached patients and professionals in 30 countries.