Cure SRD5A3 report on the congenital disorder of glycosylation SRD5A3-CDG

May 16, 2021

May 16th is World Congenital Disorder of Glycosylation (CDG) Awareness Day – a day that is celebrated by a global community to help raise awareness on this rare disease. 

CDG are a large group of rare, genetic metabolic disorders that affect a process called glycosylation. Glycosylation is the complex process by which sugars are attached to proteins and lipids and is critical to the healthy function of cells. Some of the most common signs and symptoms of CDG include low muscle tone, seizures, slow growth, developmental delays, liver disease, abnormal bleeding and vision problems. More than 150 CDG types have been identified to date. Currently, treatments do not exist for most CDG types and awareness of this growing group of rare diseases is lacking among the medical and scientific communities.

Cure SRD5A3 is a research initiative that is focused on developing life-altering therapies and accelerating scientific breakthroughs for a type of CDG called SRD5A3-CDG. It is one of several CDG-focused research collaborations funded by the Sappani Foundation. Since the launch of Cure SRD5A3 in 2019, their research team has developed new animal models of SRD5A3-CDG, have completed a natural history study and are currently evaluating gene therapy and drug repurposing in their therapy development pipeline. 

In an effort to help raise awareness of SRD5A3-CDG on this day, Cure SRD5A3 has developed an educational report with more information on this disease and their ongoing research. 

This year, Cure SRD5A3 is launching research projects focused on biomarker discovery and uncovering disease mechanisms, exploring new therapeutic avenues and establishing a global patient registry.  

For more information on SRD5A3-CDG and to read the 2021 Cure SRD5A3 report, visit their website