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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

July 26, 2022

6th World Conference on CDG

/ Caparica, Portugal

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July 18, 2022

Gordon Research Seminar: Glycobiology

/ Venutra, CA, United States

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July 18, 2022

Gordon Research Conference: Glycobiology

/ Ventura, CA, United States

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July 11, 2022

SSIEM Annual Symposium

/ Freiburg, Germany

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July 11, 2022

CDG UK Family Weekend 2022

/ Bridgefoot, Stratford-Upon-Avon, United Kingdom

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May 11, 2022

International Carbohydrate Symposium (ICS 2022)

July 10-14, 2022 / Florianopolis, Brazil

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May 10, 2022

Society for Glycobiology Annual Meeting

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

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Publications

August 15, 2022

In special coagulation, think horses not zebras: A clotted sample from a patient with congenital disorder of glycosylation

Saadalla A, Stuart M, Ashrani A, Pruthi R, Morava E, Chen D, Seheult J. Int J Lab Hematol., August 10, 2022

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August 15, 2022

NUS1 and Epilepsy-myoclonus-ataxia Syndrome: An Under-recognized Entity?

Riboldi GM, Monfrini E, Stahl C, Frucht SJ. Tremor Other Hyperkinet Mov (N Y)., June 15, 2022

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August 15, 2022

Systematic Review: Drug Repositioning for Congenital Disorders of Glycosylation (CDG)

Brasil S, et al. Int J Mol Sci. , August 5, 2022

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August 8, 2022

Lab-in-droplet: From glycan sample treatment toward diagnostic screening of congenital disorders of glycosylation.

Liénard-Mayor T, Bricteux C, Bendali A, Tran NT, Bruneel A, Taverna M, Mai TD. Anal Chim Acta., August 8, 2022

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August 8, 2022

A recurrent homozygous missense DPM3 variant leads to muscle and brain disease.

Nagy S. et al. Clinic Genet., August 6, 2022

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August 3, 2022

Case Report: DPM1-CDG: Novel Variant with Severe Phenotype and Literature Review

Lausmann H, Zacharias M, Neuhann TM, Locher MK, Schettler KF. Front Genet., July 13, 2022

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August 1, 2022

A case of ALG11-congenital disorders of glycosylation diagnosed by post-mortem whole exome sequencing

Arai Y, Okanishi T, Kanai S et al. Brain Dev., July 27, 2022

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August 1, 2022

Stakeholders’ views on drug development: the congenital disorders of glycosylation community perspective

Monticelli M, Francisco R, Brasil S et al. Orphanet J Rare Dis., July 30, 2022

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