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!