#CDGResearch

CDG research explained: Because a video is worth a thousand pictures

New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a people approach is the most recent sicentific paper which results from the united efforts of the international CDG Community. 

The project was led by the international CDG research network - CDG & Allies - Professionals and Patient Associations International Network (CDG&aAllies-PPAIN). It entailed an innovative people-centric approach to further explore immunological involvement in CDG.

This video explains the main results of this scientific work in a simple and very visual way.

Find the full paper at https://bit.ly/PaperImmunoCDG

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CDG: A Community of HOPE features Dr Belén Pérez

CDG: A Community of HOPE!

This week's edition features...

Bélen Pérez is an amazing #CDGResearcher dedicated to developing innovative therapies for CDG #PharmacologicalChaperones

Dr Pérez also works closely with CDG Patient Associations and families Aescdg Cdgsindrome

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Some examples of Dr Pérez work, include https://worldcdg.org/index.php/news/2020-05/new-possible-therapeutic-strategy-pmm2-cdg

She gives us HOPE!

#CDGCommunity #CDGDiversity #RareNotAlone

Please, subscribe the World CDG Organization Youtube Channel at bit.ly/CDGYoutube to get this and other exciting content

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Congenital Disorders of Glycosylation (CDG) are caused by defects in the cellular machinery responsible for making and altering sugars and attaching them to proteins and lipids. There are over 140 different CDG types.

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World CDG Organization Newsletter - The 1st Edition is out!!!

1st edition

📬World CDG Organization Newsletter: 1st EDITION is out!

‼️Read All about it HERE  ‼️

🤲. 🤝. ✊

Share. Unite. Empower2Act

Would you like to be a CDG Voice in the World 🌍?#CDGWorldVoice

👩‍🔬👨‍⚕️Do you have any important research highlights?

✊Is your CDG patient association promoting a 🆕 initiative?

👨‍👩‍👧‍👦Do you want to share your personal CDG story?

 

Write to sindromecdg@gmail.com and we will include your exciting news in the next edition (November 2020).

📨Please send word until 5 November 2020

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New Paper: Read all about it!

Dear #CDGCommunity,

We have great news - Our most recent paper "New insights into immunological involvement in Congenital Disorders of Glycosylation (CDG) from a people-centric approach " is out!

This was a project led by CDG & Allies -PPAIN and made possible by the World #CDGCommunity

If you'd like a copy, you can:

1) Send an email to sindromecdg@gmail.com or;

2) Go to https://bit.ly/PaperImmunoCDG

We will be sharing some more results of this work with you soon, so STAY TUNED!

Thank you for being the most amazing research partners #CDGResearch

#PatientCentricity

Thank you to all of those who participated, helped in the dissemination and ensorsed this project!

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CDG: A Community of HOPE features Dr Ethan Perlstein

Image removed.CDG: A Community of HOPE!Image removed.

This week's edition features...

Image removed. Ethan Perlstein is a Image removed.researcher and Image removed.entrepreneur who has been:

1) Partnering with Image removed.#CDGFamilies to accelerate #CDGResearch, and;

2) Focusing on creating innovative Image removed.disease models for #PMM2CDG.

Thanks to all the work developed by Dr Perstein and his team a existing drug (approved in Japan to treat diabetic neuropathy) is currently being tested as a possible treatment for #PMM2CDG #DrugRepurposing To learn more about that work, visit https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6899038/

He gives us HOPE!Image removed.

#CDGCommunity #CDGDiversity #RareNotAlone

Image removed.Image removed.Please, subscribe the World CDG Organization Youtube Channel at bit.ly/CDGYoutube to get this and other exciting contentImage removed.Image removed.

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CDG: A Community of HOPE features Dr Christina Lam

Image removed.CDG: A Community of HOPE!Image removed.

This edition features...

Image removed.Dr Christina Lam:

-> a Image removed. CDG Professional who is also actively involved in family/patient Image removed.education and Image removed.empowerment.

"As a physician, It brings me joy to come to see these individuals with CDG". And, Dr Lam for sure brings joy and comfort to all the (many, many!) CDG patients and families she cares for (and aboutImage removed.).

.She gives us HOPE!Image removed.

#CDGCommunity #CDGDiversity #RareNotAlone

Image removed.Image removed.Please, subscribe the World CDG Organization Youtube Channel at bit.ly/CDGYoutube to get this and other exciting contentImage removed.Image removed.

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Congenital Disorders of Glycosylation (CDG) are caused by defects in the cellular machinery responsible for making and altering sugars and attaching them to proteins and lipids. There are over 140 different CDG types

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CDG: A Community of HOPE features Dr Mercedes Serrano

Image removed.CDG: A Community of HOPE!Image removed.

We are so happy to host Image removed.Dr Mercedes Serrano!

Image removed.Dr Serrano is a CDG leading specialist. Based in Barcelona, Image removed. she works very closely with the Spanish #CDGCommunity, but with our Image removed. community too.

Image removed.She has been leading a clinical trial for PMM2-CDG (repurposing acetazolomide for the treatment of cerebellum-associated manifestations)

She gives us HOPE!Image removed.

#CDGCommunity #CDGDiversity #RareNotAlone

Image removed.Image removed.Please, subscribe the World CDG Organization Youtube Channel at bit.ly/CDGYoutube to get this and other exciting contentImage removed.Image removed.

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Congenital Disorders of Glycosylation (CDG) are caused by defects in the cellular machinery responsible for making and altering sugars and attaching them to proteins and lipids. There are over 140 different CDG types.

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CDG: A Community of Hope! This week's guest: Barbara Vulso

💚CDG: A Community of HOPE!💚

Starring today in our #CDGAwareness campaign is Barbara Vulso 👩‍🎤:
-> A loving CDG Mom and fierce advocate who has repeatdly put her powerful voice to the service of the #CDGCommunity 👊<-
Her journey, her strength and courage are so inspirational!

She gives us HOPE!💚
#CDGCommunity #CDGDiversity #RareNotAlone
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Congenital Disorders of Glycosylation (CDG) are caused by defects in the cellular machinery responsible for making and altering sugars and attaching them to proteins and lipids. There are over 140 different CDG types.

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New possible therapeutic strategy for PMM2-CDG

Mechanism of action of proteostasis activators

 

The research group U746 CIBERER from Madrid led by Dr. Belén Pérez just published very promising results of aa possible therapeutics strategy for PMM2-CDG. Even though this is the most frequent Congenital Disorders of Glycosylation (CDG) type affecting about 1000 people worldwide, there is still no treatment for this condition. 

PMM2-CDG is caused by a genetic defect in the phosphomannomutase 2 (PMM2) protein that causes loss of function of this protein, responsible for several and diverse clinical presentations. The main reason for this lack of function is the incorrect folding when the protein is produced.

Dr. Bélen's team evaluated the effect of proteostasis regulators in the stability and activity of several variants of PMM2 and showed their potential to rescue the PMM2 defect. This study, published in Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, showed that treatment of cellular models with celastrol, one of the molecules under study, increased both the quantity of protein and its activity. This was accompanied by an increase in the levels of protein and gene expression of Heat Shock Proteins (Hsps). In fact, the Hsp90 seems to be the main responsible behind PMM2 stabilization.

This proof of concept is a very exciting development for the CDG community as it demonstrate the potential of proteostasis regulators to treat PMM2-CDG by stabilizing the PMM2 protein.

 

Reference:

Proteostasis regulators as potential rescuers of PMM2 activity. A.Vilas, P.Yuste-Checa, D.Gallego, L.R.Desviat, M.Ugarte, C.Pérez-Cerda, A.Gámez, B.Pérez. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. doi: 10.1016/j.bbadis.2020.165777

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Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function

A new addition to the  CDG family - GALNT2-CDG.

Many congratulations to Dr Andrew Edmondson and to his team for this great international collaborative study describing novel GALNT2-CDG.

We are very pround to be part of an innovative effort to spread knowledge and awareness of this new CDG!

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