Call for research to improve the quality of life of people living with rare diseases

CDG

The CDG & Allies calls for research based on the needs of people living with rare diseases and their families, as a way to improve the quality of life of people living with Congenital Disorders of Glycosylation (CDG), a group of rare hereditary disorders. This alert comes as part of Rare Disease Day, which was celebrated on February 28.

"Rare Disease Day is a global movement on Rare Diseases with extreme relevance for people living with these types of conditions. Currently, the vast majority of CDG do not have any therapy available; this research is needed. It is a constant fight for equity, for social inclusion, and for people living with CDG to have the best possible quality of life," says Vanessa Ferreira, sister of a person living with CDG, co-founder and researcher of CDG & Allies.

Today, many organizations of people living with rare diseases carry out a form of collaborative activism, which is called "Collective Hybrid Model (CHM)". The CDG & Allies is a unique and pioneering example in our country of this type of activism. Since 2016, several CDG associations, families and experts have united in the "fight against CDG''. CDG families and the associations that represent them, are "experts by experience" with the power to identify urgent needs regarding research and development of therapies. That is, CDG families are not just restricted to live with a diagnosis, they have an active role when it comes to research and development of therapies to meet their needs as well as from other  families and of people living with Rare Diseases", Vanessa adds.

"Parents and family members are abandoned to their fate, living in the incessant search for reliable information about these diseases, about therapies and in the search for answers to their children's needs. They struggle daily with the unattainable - the cure for the disease," says Rosália Félix, mother of a person living with CDG, co-founder of the Portuguese CDG Association. 

"Many of the developments that have taken place in the area of CDG are mainly related to the identification and description of new types of the disease and diagnostic methods." adds Paula Videira, co-founder and researcher of CDG & Allies at NOVA School of Science and Technology (FCT NOVA).

"Today, there is still a delay and failure in diagnosis, lack of information about rare diseases in general, lack of awareness from professionals about this group of diseases, lack of availability of quality care, scarcity of social benefits, reduced autonomy and difficulty integrating into the world of work and the social and family environment," concludes Rosália Félix.

CDG are a group of over 170 inherited diseases that affect glycosylation, a process by which all human cells accumulate long-chain of sugars that are attached to proteins or lipids (fats), essential for many biological functions.These diseases are highly disabling, with a high pediatric mortality rate and a significant negative impact on the quality of life of patients and families.

For more informations see: https://worldcdg.org/ 

 

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CDG: A Community of HOPE features Paula Videira

Prof Paula Videira is a researcher at NOVA University and the co-founder of the international network CDG & Allies - PPAIN.

She is an expert in glycoimmunology (which studies the role of sugars in immunologic response) and her main focus is the study of the role of glycosylation defects in immunological symptoms and find new therapies in this area.

She gives us HOPE!

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CDG: A Community of Hope_interview w/ Carlota Pascoal

💚CDG: A Community of HOPE!💚

Our interview today features Carlota Pascoal, an extremely motivated researcher and patient advocate for CDG.

She will tell us about the main goals of the international network CDG & Allies-PPAIN which is aimed at promoting CDG awareness and research and also educating and empowering #CDGpatients and their families.

She gives us HOPE! 💚

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2nd CDG Virtual Coffee: Stroke-like episodes & Seizures in CDG

2nd CDG Virtual Coffee

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

What is it about? Stroke-like episodes and seizures in CDG
When? December 11, 2020, at 4 p.m (CET)
With who? Dr Mercedes Serrano from Sant Joan de Déu Hospital

REGISTER NOW and send your QUESTIONS HERE
by December 6th (Sunday).
 

Your questions are extremely important to make a session that corresponds to your expectations!


We are looking forward to e-meeting you for a warm cup of coffee!
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World CDG Organization Newsletter: 2nd edition is out!

2nd edition of the World CDG Organization Newsletter

📣 World CDG Organization Newsletter: 2nd 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 (January 2021).

💻 Please send word until 5 January 2021

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CDG Therapeutic Trials: UPDATE 

CDG Therapies

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

 

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“CDG: A global Overview” Webinar in Portuguese is now available on YouTube

CDG: A global Overview” Webinar in Portuguese

In case you missed it on the 6th of November…

“CDG: A global Overview” Webinar in Portuguese is now available on YouTube!

In this 1st Edition the Brazilian Association for CDG brings us speakers Dr. Kimiyo Raymond (USA), Dr. Jaime Brum (BR), Dr. Vanessa dos Reis (PT) and Dr. Charles Lourenço for an exciting talk!

Watch it here:

https://youtu.be/9RNyLvcBAXU

 

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CDG: A Community of HOPE features Cristina Pérez Navas

💚CDG: A Community of HOPE!💚

Our interview today features Cristina Pérez Navas, a dedicated CDG mom and advocate.

She will tell us how the CDG diagnostic changed her life and also how the work of the Spanish CDG Association (AESCDG) is helping #CDGpatients and their families.

She gives us HOPE! 💚

 

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 Julie Bonache

💚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.

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