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A knowledge base
for the global
CDG community

CDG Hub is a knowledge base that is designed to educate researchers, clinicians, patients and families on congenital disorders of glycosylation.

CDG Hub is a nexus for curated information on more than 170+ CDG types, clinical trials, research models and resources, including a database of CDG medical experts and researchers worldwide. CDG Hub aims to unite the global CDG community, increase public awareness, and inspire collaborative research to advance scientific discoveries.

Congenital Disorders of Glycosylation

Congenital Disorders of Glycosylation (CDG) are a large group of rare, inherited disorders that are caused by defects in glycosylation.

Glycosylation is the process of assembling and adding sugar chains, called glycans, to proteins and lipids. When someone has CDG, their body cannot properly create or add glycans to proteins and lipids.

As every part of the body needs glycosylation to work properly, people with CDG have many health problems which often affect multiple body systems. There is no cure for CDG, but treatments are available to manage symptoms and many therapies are currently in development.

170+

There are 170+ different types of CDG and new types are discovered each year.

400+

Over 400 genes in the human genome are involved in glycosylation and mutations in more than 170 of them are known to cause CDG.

Families

Learn everything you need to know about CDG. Discover educational resources developed specifically for families, important medical terms to know, FAQs, and connect with other CDG families near you!

Clinicians

Are you a healthcare professional interested in learning about CDG? Discover educational resources for clinicians and patients, CDG medical experts and centres around the world and upcoming clinical trials.

Researchers

Our understanding of CDG continues to evolve as researchers around the world study what causes the disease and how it affects the body. Discover researchers who are working to better understand CDG, improve diagnosis and develop new treatments or cures. Be inspired to launch collaborative research projects to accelerate scientific discoveries on CDG!

Join CDG Connect PIN: a worldwide CDG patient registry

Help advance progress towards improved diagnosis, treatments and cures for CDG by joining a global patient registry.

Publications

March 6, 2024

Exploring ligand interactions with human phosphomannomutases using recombinant bacterial thermal shift assay and biochemical validation

Monticelli M, Hay Mele B, Wright DM, Guerriero S, Andreotti G, Cubellis MV. Biochimie., March 6, 2024

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March 1, 2024

Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models

Radenkovic S, et al. Cell Rep. , March 1, 2024

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March 1, 2024

Motor improvement in children with PMM2-CDG syndrome following a six-month rehabilitation treatment utilising whole-body vibration; a retrospective study

Bossier C, Stark C, Martakis K, Duran I, Schoenau E. J Musculoskelet Neuronal Interact., March 1, 2024

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February 5, 2024

Role of PIGM and PIGX in glycosylphosphatidylinositol biosynthesis and human health (Review)

Torres-Valdetano Á, Vallejo-Ruiz V, Milflores-Flores L, Martínez-Morales P. Biomed Rep, February 5, 2024

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