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.
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.