Reversibility of motor dysfunction in the rat model of NGLY1 deficiency
The first person with NGLY1 deficiency (NGLY1-CDDG) was identified in 2012. Since then, more than 60 new patients have been diagnosed worldwide. NGLY1 deficiency is caused by mutations in NGLY1 gene, resulting in a broad spectrum of clinical features including developmental delay, seizure,..
Rare Revolution Magazine Digital Spotlight: Professor Jaak Jaeken
"In 1980 Professor Jaak Jaeken published the very first clinical description of PMM2-CDG, known as CDG-1a at that time. In this interview Professor Jaeken explains the complexity of CDG, discusses the first reported cases and his involvement in the discovery, as well as the challenges with..
SRD5A3-CDG Report Release for World CDG Awareness Day!
In honour of World CDG Awareness Day and to celebrate our wonderful SRD5A3 community, we have developed an educational report on SRD5A3-CDG and the Cure SRD5A3 research program! This report is for everyone - patients and their families, caregivers, healthcare professionals, researchers and..
Patient education webinars for CDG/NGLY1 Community
CDG Care, in partnership with Putting Rare Diseases Patients First!®, a 501(c)(3) nonprofit charity, is featuring the first in a series of patient education webinars for the CDG/NGLY1 Community. It is designed for patients, parents, caregivers, and healthcare professionals. Click here for more..
5th World Conference on CDG
The 5th World Conference on CDG will be held from 14th to 16th May, 2021. The theme is "#StandUnited4CDG Patient Centric approach that drives CDG therapeutic development: Impossible, Is Possible!" The conference will see the presentation of the qualitative study led during the previous conference..
Help create a CDG Mosaic
The World CDG Organization is looking to create a CDG Mosaic honouring CDG adults and children. It is to remind everyone of being united in making a profound difference in the lives of people living with CDG. Click here for details on how you can contribute...
FCDGC Study Reveals Liver Implications for Patients with CDG
A natural history study by the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC) is uncovering new insights on liver function in patients with congenital disorders of glycosylation (CDG). A paper published recently in the Orphanet Journal of Rare Diseases based on findings from..
FCDGC Guidance for Adult CDG Patients receiving the COVID-19 Vaccine
The Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC) has released guidance for adult CDG patients receiving the Covid-19 vaccine. You can access it here or on the CDG Care website...
World CDG organization is looking for researchers
The World CDG Organization (WCDGO, www.worldcdg.org), the international patient-led CDG & Allies -PPAIN research network (www.researchcdg.com) and the Portuguese Association for CDG are happy to announce the opening of TWO NEW research projects: The development of a quality of life tool,..
Bertrand Might’s life led to crucial medical discoveries
“After years of research, it was the discovery of a double mutation in Bertrand’s NGLY1 gene, and the constellation of symptoms linked to it, that explained the cause of the illness and built a worldwide community around it.” Read more here:..