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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

September 3, 2024

SSIEM Annual Symposium 2024

September 3, 2024 / Porto, Portugal

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November 10, 2024

Society for Glycobiology Annual Meeting 2024

November 10, 2024 / Amelia Island, FL, United States

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Publications

May 9, 2024

Novel insight into FCSK-congenital disorder of glycosylation through a CRISPR-generated cell model

Fazelzadeh Haghighi M, Jafari Khamirani H, Fallahi J, Monfared AA, Ashrafi Dehkordi K, Tabei SMB. Mol Genet Genomic Med., May 9, 2024

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May 9, 2024

Genetics of glycosylation in mammalian development and disease

Stanley P. Nat Rev Genet., May 9, 2024

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May 8, 2024

Expanded prenatal phenotype of ALG12-associated congenital disorder of glycosylation including bilateral multicystic kidneys.

Shanmugasundaram M, Wang A, Morand M, Bixler C, Jain S, Ray J. Am J Med Genet A. , May 8, 2024

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April 30, 2024

Ocular features of NGLY1 deficiency from a prospective longitudinal cohort.

Frater CH, Ruzhnikov MRZ, Beres S, Alcorn D, Shue A, Levy RJ. J AAPOS., April 30, 2024

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April 27, 2024

Mixed-phase weak anion-exchange/reversed-phase LC-MS/MS for analysis of nucleotide sugars in human fibroblasts

Rahm M, Kwast H, Wessels HJCT, Noga MJ, Lefeber DJ. Anal Bioanal Chem., April 27, 2024

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April 24, 2024

Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology

Ng BG, Freeze HH, Himmelreich N, Blau N, Ferreira CR. Mol Genet Metab., April 24, 2024

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April 24, 2024

Transcription factor Nrf1 regulates proteotoxic stress-induced autophagy

Ward MA, V et al. J Cell Biol., April 24, 2024

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April 22, 2024

Intranasal oxytocin suppresses seizure-like behaviors in a mouse model of NGLY1 deficiency

Makita Y, Asahina M, Fujinawa R, Yukitake H, Suzuki T. Commun Biol. , April 22, 2024

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