#CDGResearch

Call 4 Researcher I Psychology or social sciences fields

Candidate profile

The World CDG Organization (WCDGO, www.worldcdg.org), the international patient-led CDG & Allies -PPAIN research network (www.researchcdg.com)  and the Portuguese Association for CDG are happy to announce the opening of TWO NEW research projects:

1. The development of a quality of life tool, and;

2. The assessment of vaccination and/or infection-related coping skills and actions among a rare disease community.

 

 

 

Our CANDIDATES PROFILE:

1. Psychology or social sciences background;

2. Interest and know-how in semi-structured interviews, quality of life questionnaires and qualitative data analysis;

3. Currently doing MSc's (preferential).

 

Our PROPOSAL:

1. Identify stretagies and coping skills and/or access quality of life;

2. Working in the field of rare diseases;

3. Collaborating with an active and empowered patient community.

 

If you meet our CANDIDATES PROFILE, please send your CV to sindromecdg@gmail.com.   

The WCDGO, CDG & Allies-PPAIN and APCDG are non-profit organizations that work in close contact and collaboration with a multi-disciplinary team that includes families and experts from all around the World. 

Predicted outcomes for these projects are:

  1. High-level scientific publications and posters at congresses, such as a unique opportunity to present at an upcoming conference with worldwide outreach;

  2. To be integrated into an international network and increase your career visibility;

  3. To create lay-language resources and activities;

  4. Recommendation letter.

Note that both projects can be done remotely and that the candidates will benefit from an inclusive and motivational working environment.

 

Looking forward to hearing from you!

Share on:

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:

Clinical management guidelines for CDG

Research papers featuring clinical management guidelines for PMM2-CDG, MPI-CDG and PGM1-CDG

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

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 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

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 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: