Rare Disease Research Challenges, Opportunities Due to COVID-19 Featured in New Article sheila.wolfer@… Tue, 05/04/2021 - 12:40
Rare Disease Research Challenges, Opportunities Due to COVID-19 Featured in New Article

Challenges in conducting clinical research in the midst of the COVID-19 pandemic are spotlighted in an article from three consortia of the Rare Diseases Clinical Research Network (RDCRN). Their contribution was featured in the latest issue of Rare Neurological Diseases Special Report.

FCDGC Natural History Study Reveals Liver Implications for Patients with CDG Dakota Campbell Wed, 01/27/2021 - 13:54
The FCDGC natural history study team meeting via Zoom

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 the study recommends that all CDG patients have at least yearly comprehensive screening for liver disease, including physical exam, lab work, and imaging with ultrasound and elastography.

Researchers Establish New Consensus Guidelines for Congenital Disorders of Glycosylation Dakota Campbell Mon, 12/07/2020 - 11:11
Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC)

Health care providers now have a road map for treating two types of congenital disorders of glycosylation: MPI-CDG and PGM1-CDG. A team of international experts from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC) published new guidelines for the diagnosis and management of MPI-CDG and PGM1-CDG in the Journal of Inherited Metabolic Disease.