#CDGcommunity

Leading innovative research based on CDG Families Needs

Immunology Involvement in research

Lisbon, 9th October 2020 – Rita Francisco, CDG & Allies Professionals and Patient Associations International Research Network (CDG & Allies PPAIN) researcher, leads unprecedented worldwide research with families of children with Congenital Disorders of Glycosylation (CDG). The goal was the collection of data in order to understand the impact of infection, allergies and other clinical manifestations on the lives of CDG patients, to implement a research approach centered on these families as well as to develop research projects in this fields.


“As the CDG community is scattered around the world we chose to develop a tool based on an electronic survey, the ImmunoCDGQ. The questionnaires were translated into six languages to facilitate and diversify family participation. We created a set of dissemination and empowerment campaigns and strategies exploring various online platforms to maximize the recruitment, but also to ensure the participants were properly informed”, states Rita Francisco, who is also a member of the Portuguese Association for CDG and other rare metabolic diseases (APCDG) and a member of the World CDG Organization.


The researcher mentions that there are now developing two new research projects based on the obtained results, alongside with other initiatives.


The conclusions of the study “New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach”, led by Rita Francisco, reveal, among other aspects, that CDG patients have a higher prevalence of Immunological manifestations; that the most common CDG type (PMM2-CDG) exhibits diverse and severe infection patters which are a major cause of infection; that infection in PMM2-CDG are a greater clinical relevance in childhood and are significantly associated with the gastrointestinal tract; and that infections and allergies negatively affect the day to day activities of  PMM2-CDG patients.



CDG are a group of 150 hereditary disease that affect glycosylation, a process though which all human cells produce glycan trees (complex and ramified sugars) which are linked to proteins or lipids (fats). These diseases are highly incapacitating, have a high pediatric mortality and a significantly high negative impact on the quality of life of the patients and their families.  CDG are a family of very rare disease, being estimated that the most common type (PMM2-CDG) has an incidence of 1 in every 20 thousand people.


For more information: https://worldcdg.org   


About APCDG
The Portuguese Association for CDG and other rare metabolic diseases (APCDG) is a non-profit organization dedicated to the promotion of innovative research that makes a difference in the lives of patients and their family members. The activities of this association are performed at a national and international levels. To know more, visit http://www.apcdg.com/

About the WCDGO
The World CDG Organization is the unified voice of the people living with CDG. The ai mis to transform the global understanding of CDG and to advocate for those who live with it. The WCDGO has a strong voice, in sync with governments, researchers, clinicians and industry to promote research, diagnosis, treatment and services for CDG. The WCDGO is led by CDG & Allies Professionals and Patient Associations International Research Network (CDG & Allies PPAIN). 

About CDG & Allies PPAIN 
CDG & Allies PPAIN is an international research network dedicated to CDG and related disease, headquartered at NOVA School of Science and Technology. For more information, visit: https://www.researchcdg.com/.

Share on:

CDG: A Community of HOPE features Maurizio Scarpa

CDG: A Community of HOPE

This weeks edition features...

Maurizio Scarpa is the coordinator of the European Reference Network for Hereditary Metabolic Diseases (MetabERN) which has a working group dedicated to CDG. Here, he explains what is MetabERN and highlights the state of the CDG landscape at the European level. As for the future, he is optimistic about therapy discovery because there is so much commitment from the CDG community, both professionals and patient associations! He finishes by saying we should continue to attract the interest of young investigators so we can keep up with the good work!

He gives us HOPE!💚

#CDGCommunity #CDGDiversity #RareNotAlone

---

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.

Share on:

Show us your inner artist | CDG Art Project

There is an artist inside everyone of us. We would like to know our CDG Community artists.

 

Christmas is just around the corner and what better way to share and spread the holiday jolly than sending postcards to your friends and loved ones.

 

This year, for the CDG & Allies-PPAIN and the APCDG Christmas campaign we would like to count with our CDG Community artists and turn their wonderful drawings into postcards.

 

 

Will you join us in this project?

It will be SUPER fun!

 

1 – Ask your child/children to do a drawing,

2 – Scan it and send it to sindromecdg@gmail.com

3 – We will turn the drawings into postcards

 

These postcards will be sold as part of a fundraising campaign for research in CDG.

We look forward to meet our CDG Community artists!

Share on:

Let’s meet up for a CDG Virtual Coffee?

CDG Virtual Coffees

The World CDG Organization, the international research network CDG & Allies-PPAIN and the Portuguese association (APCDG) are very excited to invite you to participate in our most recent outreach and community building initiative:


                                          CDG VIRTUAL COFFEES 


When are they taking place? 1st Thursday of every month.

SAVE THE DATE

The first edition is on 5th November at 4 p.m (CET).

The topic of this 1st CDG Virtual Coffee is Immunological involvement in CDG (more information HERE). Rita Francisco is going to be the main speaker. Please confirm your attendance until 1st November by filling in this Google Form HERE.

 

Why are we organizing this initiative? Because the CDG Community (Families + Professionals) more than ever need a virtual and open networking forum.

What are the CDG Virtual Coffees?

A platform where relevant topics for CDG will be shared and discussed. They will mainly be related to clinical and research aspects.

English is the primary language.

How long are they?

Every CDG Virtual Coffee will take 30 min.

Who can participate?

It is open to all audiences and free of charge (primary audience: CDG Families and Professionals, but all of those interested or working in biology, medicine, or related fields).

Note that participation certificates are available upon request

AND, if you are a CDG Professional interested in presenting your work or a patient association with some exciting new initiative, please reach out to us to sindromecdg@gmail.com and we are happy to have you taking over our virtual café.

Share on:

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

.

.

.

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

----------

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.

Share on:

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

Share on:

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!

Share on:

CDG: A Community of HOPE features Sandro Bellinzis

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

This week's edition features...

Sandro Bellinzis is a Image removed.loving CDG Dad and an Image removed.invested advocate.

Image removed.When CDG #SLC35A2CDG burst into his (and his Family) life, Sandro felt he needed a Image removed.door to knock on but he couldn't find any.

That is why Sandro decided to take matters into his own hands, creating

CDG Italia

.

Sandro didn't only build a Image removed., he has built a Image removed.house full of Image removed.informationImage removed. and Image removed.comfort to be shared with other #CDGFamilies.

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.

----------

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

Share on:

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.

Share on:

CDG: A Community of HOPE features Vijay Sappani

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

This edition features...

Image removed.Vijay Sappani, a CDG Father who describes CDG as "a complete life changer".

Besides working daily on making sure his daughter needs are met, Vijay is also a committed CDG AdvocateImage removed. & entrepreneurImage removed..

CDG changed Vijay's life, he is now working towards ensuring that his contribution changes the lives of the #CDGCommunity for the better!Image removed.Image removed.

.

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.

----------

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

Share on: