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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.

Events

May 11, 2022

International Carbohydrate Symposium (ICS 2022)

July 10-14, 2022 / Florianopolis, Brazil

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May 11, 2022

Inherited metabolic disease: a case based approach

/ June 22-25, 2022 / London, United Kingdom

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May 11, 2022

ProDGNE Meeting 2022

/ May 31, 2022 / Lisbon, Portugal

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May 11, 2022

Canadian Glycomics Symposium

May 11-13, 2022 / Banff, Alberta, Canada

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May 11, 2022

World CDG Awareness Day

May 16, 2022 / Virtual Worldwide

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May 11, 2022

Carbohydrate Bioengineering Meeting (CBM14)

May 31- June 1 2022 / Norefjell, Norway (Virtual)

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May 11, 2022

ICG 2022: 16. International Conference on Glycobiology

June 9-10, 2022 / Barcelona , Spain (Virtual)

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May 11, 2022

The Microbial Glycobiology Conference

June 12-16 2022 / Lisbon, Portugal

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May 10, 2022

Society for Glycobiology Annual Meeting

October 2-5, 2022 / Amelia Island, Florida, USA

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May 9, 2022

SialoGlyco

September 5-8, 2022 / Osaka, Japan

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Publications

May 20, 2022

Specific N-glycans regulate an extracellular adhesion complex during somatosensory dendrite patterning

Rahman M, Ramirez-Suarez NJ, Diaz-Balzac CA, Bülow HE. EMBO Rep., May 20, 2022

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May 12, 2022

Delineating the epilepsy phenotype of NGLY1 deficiency

Levy RJ, Frater CH, Gallentine WB, Phillips JM, Ruzhnikov MR. J Inherit Metab Dis., May 12, 2022

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May 12, 2022

CDG or not CDG

Freeze HH, Jaeken J, Matthijs G. J Inherit Metab Dis., May 12, 2022

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May 10, 2022

Patient-reported outcomes and quality of life in PMM2-CDG

Ligezka, A.N., Mohamed. A., Pascoal, C. et al. Mol Genet Metab., April 20, 2022

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May 10, 2022

Intellectual disability-associated disruption of O-GlcNAc cycling impairs habituation learning in Drosophila

Fenckova, M., Muha, V., Mariappa, D. et al. PLoS Genet., May 2, 2022

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May 10, 2022

Effects of the T337M and G391V disease-related variants on human phosphoglucomutase 1: structural disruptions large and small

Stiers KM, Owuocha LF & Beamer LJ. Acta Crystallogr F Struct Biol Commun . , May 1, 2022

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April 14, 2022

Could distal variants in ALG13 lead to atypical clinical presentation?

Accogli, A., Radenkovic, S., Ranatunga, W. et al. 2022, April 14, 2022

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April 14, 2022

The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variant

Katata, Y., Uneoka, S., Saijyo, N. et al. April 14, 2022, April 14, 2022

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