#CDGResearch

Dr Stepahnie Grunewald is THE CDG Medical Expert in the United Kingdom. She explains how is her flow of the diagnosis of a CDG and the patient follow-up and shares how she sees the future of the CDG diagnostic landscape.

She gives us HOPE!

The 2nd Edition of the CDG Virtual Coffees is fast approaching!

CDG Therapeutic Trials:  An expanding world of therapeutic opportunities

Two years have gone by since the publication of the review paper "CDG therapies: From Bench to Bedside" and fortunately the number of clinical trials and therapeutic developments for CDG have been on the rise.

For this reason, we have decided to provide the CDG Community with an up-to-date list of CDG Therapeutic Trials available HERE

💚CDG: A Community of HOPE!💚  

Today, our interview features Julie Bonache, a CDG Mom behind the French association for CDG "Les P'tits CDG". She shares how the CDG diagnosis changes her life and explains which are advantages of belonging to a patient group.

She 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.

***4^th Official Announcement ***

5th World Conference on CDG for families and professionals

The multidisciplinary scientific forum to advance and disseminate knowledge in the field WITH and FOR CDG families and professionals

***DRAFT PROGRAM (Access it below)***

Conference Theme: “#StandUnited4CDG Patient Centric approach that drives CDG therapeutic development: Impossible, Is Possible!”

When: Friday 14 to Sunday 16 May 2021

How: This edition, will exceptionally be a hybrid event, due to the COVID-19 pandemic. Thus, we will combine "live" in-person event for those that can join us at Faculty of Sciences and Technology of Nova University of Lisbon (FCT-UNL) (Monte da Caparica, Portugal) and conference sessions will ran "virtually".

Where: For those in-person Auditorium Auditório Caixa Geral de Depósitos

Programme is scheduled according to Lisbon time. Please check the corresponding times in your time zone HERE

Poster session: On Sunday 16^th May 2021 & World CDG Awareness day 2021 will be a live Q&A poster session.

12^th April 2021 is the due date for poster submission in order to participate in a poster exhibition during the 5th World Conference on CDG for families and professionals.

For the submission the following information is required:

• Title of the poster
• Presenter details (name and title)
• contact email 
• Abstract
• PDF of the poster (resolution for printing on A0 format)

Major Novelty: The majority of the conference sessions enter under the scope of the “Think Metabolic, Think CDG” Academy for families, academia, medical doctors and industry.

The “Think Metabolic, Think CDG” Academy aims to provide CDG stakeholders the knowledge and skills needed to become experts in CDG medicines research and development. Thus, by securing your attendance and actively participating during the conference, you will be able to achieve the “CDG Expert Level 2”. Further details, SOON! Stay tuned! 

 Let me introduce myself by saying that I am the mother of Camilla who was born in 2013 suffering from PMM2-CDG, and Gaia who was born in 2016. We live in Geneva where I worked for CERN between the years of 2011 and 2018.

 I am an eclectic person that has always cultivated different passions and roles at the same time. My ongoing  studies in Physics led me to CERN while simultaneously working full time in IT, all enriched by the surroundings of an international environment. I also speak Italian, French and English.

 Camilla's condition led me to cultivate yet a new passion: bioinformatics. As a person who loves to make a difference and contribute as much as possible for the betterment of the world, I think that being a bioinformatician in the CDG community helps me to do my bit. I also founded the CDG Swiss Association for which I’ve raised funds by writing two children's stories: “Camilla’s story” and “Camilla and the Muddle-Headed Magician”.

 I feel the CDG community to be, more than any other, a close community that truly fosters the sharing of goals, problems and successes and, although spread throughout the world, we are close in spirit.

We are thrilled to have Tatiana as our new team member and we are sure your work will make a significant impact on the CDG Community. 

💚CDG: A Community of HOPE!💚

Paola de Haas is one of the young faces of CDG Research 👩‍🔬 at the Radboud university medical center (Nijmegen, Netherlands). She shares that she dedicates her work to develop CDG models and study immunology in CDG. Currently, she is working with a zebrafish CDG model to understand the mechanisms behind the immune issues observed in CDG patients. With this work, she is contributing to what she thinks is the main need in CDG research: to build as much knowledge as possible that in the future can be translated into therapeutic options.

She gives us HOPE!💚

# CDGResearch #CDGCommunity #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.

💚CDG: A Community of HOPE!💚
Rosália Ferreira is a Super CDG Mom and advocate. She highlights the difficult road for Liliana's sweet and sour diagnosis. She shares the main worries and wishes as a mom (autonomy, management and curative therapies) and the benefits of belonging to a CDG association.
She 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.

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

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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.

Clinical management guidelines for CDG

The majority of CDG don’t have a specific treatment, hence the management of the clinical symptoms and presentations is fundamental for patients and families well being and quality of life.

In an unprecedented effort, researchers, medical professionals and patient advocates of the CDG & Allies-PPAIN network and the APCDG, teamed up to combine their knowledge and to gather the existing scattered information across the literature.

This originated 3 research papers with management guidelines for the clinical symptoms and presentations for 3 CDG types:

1- PMM2-CDG,

2- MPI-CDG

3 – PGM1-CDG

These papers are of vital importance since they are tools to educate medical doctors about the symptoms presented by these patients and more importantly, the existing management solutions, which is vital for a swift treatment response.

These literature reviews are part of the CDG & Allies-PPAIN network strategy to raise awareness for CDG and to push for research and therapy development.

If you are interested in getting these papers just write to sindromecdg@gmail.com