Do you have a GSD news story?
Message us, or see the news section in Notes for contributors.
NICE seeks lay members for technology evaluation.
NICE are looking for lay members to join their highly specialised technologies evaluation committee.
Eurordis H-Care Survey of rare diseases.
AGSD-UK supports the Eurordis-led initiative of a survey of care in rare diseases across Europe. It takes just 10 minutes!
Christmas lights – a special gift for AGSD-UK.
Frank and Irene Green from Altrincham for years have decorated their home with festive lights, this year raising money for AGSD-UK.
UN Volunteer Day – join our web team?
On this UN International Volunteer Day of 5th December, AGSD-UK asks “Could you volunteer to join our web team?”
AGSD-UK social media gets a shake up!
Rowena Barnard has taken on managing AGSD-UK’s social media, on a volunteer basis, and it has sprung into life.
Photos from our Annual Conference.
Gary Thompson sends some photos he took of the fun and the business at our Annual Conference and AGM over 5/6 October.
Dr Clive Tonks, ex-committee member of AGSD-UK.
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 resources on gene therapy.
New information and videos – past, present and future of gene therapy from the American Society for Gene and Cell Therapy.
Celebrating our longstanding McArdle’s coordinator.
A painting of the Pembrokeshire coast, by Edd Bush, was presented to Andrew Wakelin at our conference in October.
Family day at Great Ormond Street Hospital.
For the AGSD-UK Family Day at Great Ormond Street, lots of families came along and friendships and support networks were created.
Our new CEO introduces himself.
Neil Bradbury, our newly appointed Chief Executive Officer, introduces himself to our membership, and gives an insight into his plans.
Trial of Whole Genome Sequencing for newborns.
Development of services from Genomcs England continues apace, with the launch of a trial of whole genome sequencing for newborn babies.
Did you know we have an interactive glossary?
Plenty of medical and technical words are used in our website, but help is at hand with our on-line interactive glossary.
AGSD-UK helps fulfil football dreams for Ismail.
Ismail lives with Infantile Onset Pompe Disease. Aged 19, his abiding passion is football. He plays using an adapted wheelchair.
International GSD conference in Brazil next month.
The 5th International GSD Conference (IGSD2019) takes place in Porto Alegre, Brazil, from 14 to 16 November 2019.
AGSD-UK welcomes national conversation on rare diseases.
Minister at Dept. of Health and Social Care announces a national conversation to understand how to improve care for rare diseases.
Scheme helps rail passengers with hidden disabilities.
Southeastern Trains are planning to trial a scheme next year to help passengers with hidden disabilities, which could include GSD.
AGSD-UK board of trustees seeks new members.
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?
Patient-identified phenomenon confirmed in GSD5.
A phenomenon identified on AGSD-UK’s walking courses has been presented in a poster at the World Muscle Society Congress.
Recent papers on CK, GSD5 and gene therapy.
Recent papers: one on genetic testing for high CK, a GeneReviews update on McArdle’s and a review of gene therapy in GSDs.
AGSD-UK says farewell to Allan Muir.
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 moved!
The AGSD-UK office has now moved from Droxford, near Southampton, to Chester le Street, near Durham. The phone number stays the same.
Conference late bookings still open.
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.
Could you manage our website and social media?
AGSD-UK is seeking someone to fill the role of Communications Manager with responsibility for our website and social media.
Report of gene therapy in animal model of GSD5.
A new paper reports on the amelioration of disease through delivery of gene therapy in the mouse model of McArdle disease.
AGSD-UK initiative spreads across the world.
In 2011 AGSD-UK ran a week-long walking course for people with McArdle disease. It has spread to four countries so far.
Your thoughts on discreet labels for clinic visits?
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?
Please input to survey of access to treatment.
Are you facing difficulties accessing your treatment? Please complete this survey by 30th September 2019 to enable Eurordis to collate experiences.
Details on AGSD-UK conference programme.
Reserve your places now! AGSD-UK Conference 2019, Daresbury, Cheshire. Here are details of the expected presentations and workshops.
Findacure’s Cambridge rare disease showcase.
AGSD-UK supported Findacure’s networking event on rare diseases in Cambridge, represented by Gemma Seyfang of the Pompe Support Team.
Help your child enjoy a hospital visit!
Families attending Great Ormond Street or Birmingham Children’s hospitals are welcome to come along to family days this autumn.
Netflix series “Diagnosis” refers to GSD.
A new series from Netflix, in which a doctor crowd-sources diagnoses for mysterious medical conditions, opens with a story mentioning GSD.
Follow our news stories on Twitter.
Keep up-to-date – AGSD-UK now posts to Twitter the intro to our news stories, with a link to each full story.
In Wales? Contact your Assembly Member.
AGSD-UK supports Genetic Alliance UK in establishing a Cross-Party Group in the Welsh Assembly to support patients with rare, genetic conditions.
New private DIY option for CK blood tests.
There is now a private option for Creatine Kinase (CK) blood tests, with blood taken yourself at home and posted to the lab.
Strategic development for growth, services and support.
In line with AGSD-UK’s strategic plan and succession planning, we are pleased to announce the appointment of a Chief Executive Officer.
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.