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.
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.
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.
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.
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.