APCDG - Congenital Disorders of Glycosylation
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    • Get involved World CDG Awareness Day 2019 >
      • Go Social World CDG Awareness Day 19
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      • Plan An Event World CDG Awareness Day 19
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      • Go green! Think CDG! ©Campaign 19
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    • Previous Edition World Conference on CDG 2017 >
      • Follow up - World Conference on CDG 17
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About US


About US     ·     What we do     ·     Who we help

Awareness and
Visibility












​

Current Projects

Lack of awareness and visibility is one of the biggest challenges for the rare disease community. 

While public awareness and understanding of rare disease challenges have increased in recent years, much remains to be done. Limited awareness and visibility of CDG contributes to underdiagnosis of these disorders, as well as to difficulties in accessing specialised services and proper rehabilitation support. Early diagnosis of CDG is important for several reasons, such as the timely management of clinical problems, genetic counseling, and when available, treatment. Thus, CDG is the prototype of condition that cries out for visibility and awareness-raising actions targeted for families, professionals and general public.

The events targeted to society are some of our ongoing projects aimed at boosting awareness and visibility.

Our major goal is to increase the knowledge on rare diseases from multiple perspectives, from the clinicians, the researchers involved in basic and clinical studies, the pharmaceutical organizations, the patient’s association and public in general. In this way we intended to foster stronger partnerships among researchers and health care professionals involved in the management rare diseases.

​Project 1
World CDG-AED program 2018-2022 (CDG–Awareness. Education. Diagnosis)

Authors: 
Vanessa Ferreira, PhD, MBA 
Sandra Brasil, PhD
Rita Francisco, MSc
Jaak Jaeken, MD, PhD 
Collaborators: Families and CDG professionals
Graphic designer: Diogo Sampaio


AWARENESS
Raising Awareness for rarer Congenital Disorders of Glycosylation.
Leave no one behind!

Why? CDG awareness can dramatically reduce the time to a diagnosis. Better diagnoses will allow health care teams to reduce or prevent patient complications, to develop tailored treatments, and to provide more accurate genetic counselling to families. Also, education leads to families and patients' empowerment, converting them into active and informed decision-makers.

Goal: Raising awareness and aid diagnosis of CDG amongst trainee doctors, related healthcare professionals, researchers and families.. 

How? Several posters for families and physicians will be disseminated to help identify CDG symptoms.

Access to our resources for awareness in the resources section of our website.
Project 3
CDG & Allies- PPAIN & Guia Metabólica collaborative project: Making scientific discovery "patient-friendly" 

Authors: 
Vanessa Ferreira, PhD, MBA 
Sandra Brasil, PhD
Rita Francisco, MSc
Mª Antonia Vilaseca, PhD 
Mercedes Serrano, MD, PhD
Collaborators: Families, CDG and Guía Metabólica professionals


This project is converting all CDG & Allies-Professionals and Patient Associations International Network (CDG & Allies-PPAIN) into patient-friendly, short summaries, which can be read and understood by people from all backgrounds!

Visit our dedicated website section HERE.
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​Project 3
Guia Metabólica in Portuguese: this 2.0 platform has two major aims (1) to facilitate the access to information and (2) to create an interface for people involved in IEM. 

The content consists of: 
  • Scientific information in a non specialized language
  • Tips and recommendations for daily life 
  • Recipes for controlled diets 
  • Translation of abstracts with scientific contents and medical advances 

Currently, the APCDG is working with a group of highly motivated Portuguese families, friends and healthcare professionals, who volunteered to translate part of the content from Spanish to Portuguese. 

Visit our dedicated website section HERE.
Project 4
World CDG-AED program 2015-2017 (CDG–Awareness. Education. Diagnosis)

Authors: 
Vanessa Ferreira, PhD, MBA (Portuguese Association for CDG and related rare metabolic pathologies)
Collaborators: Families and CDG professionals
Graphic designer: Diogo Sampaio


AWARENESS
Raising Awareness for Congenital Disorders of Glycosylation.
Shaping the future “World CDG program 2015-2017”.


Why? CDG awareness can dramatically reduce the time to a diagnosis. Better diagnoses will allow health care teams to reduce or prevent patient complications, to develop tailored treatments, and to provide more accurate genetic counselling to families.

Goal: Raising awareness and aid diagnosis of CDG amongst trainee doctors and related healthcare professionals. 

How? Several posters translated in 11 languages for families and physicians will be disseminated to help identify CDG symptoms. A list of major labs involved on CDG diagnosis will be provided.

Access to our resources for awareness in the resources section of our website.
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EDUCATIONAL
Educational Program of Excellence on CDG:

​Why? Many CDG cases continue unrecognized or misdiagnosed.

Goal: To improve CDG knowledge by appropriate education, training and information resources aimed at developing health professionals’ skills to make appropriate referrals and to be informed when to consider that a patient may have CDG.

How? Several workshops with tailored-programs will contribute to change the mindset that a health professional will never come across patients with rare diseases.

Past Events:
  • 17 March 2018 at Centro de Genética Médica Dr Jacinto de Magalhães, Porto
Local co-organizers: Dr Esmeralda Martins and Dr Dulce Quelhas
  • 27 February 2017 at Ordem dos Médicos de Coimbra
Local co-organizers: Dr Luísa Diogo
  • 25 February 2016 at Hospital de Beja.
Local co-organisers: Dr Fátima Furtado and colleague (TBD).
  • 26 February 2016 (Friday 14-18h) at Hospital de Santa Maria, Lisbon.Local co-organisers and speaker: Dr Patrícia Janeiro and Dr Ana Gaspar
  • 29 February 2016 in Porto 
Local co-organisers: Dr Esmeralda Martins, Dr Esmeralda Rodrigues and Dr Elisa Leão Teles.

The panel of speakers will be formed by prestigious Portuguese and International professionals. Amongst them, the local co-organisers, Pf Jaak Jaeken (Belgium), Pf Eva Morava (USA), Dr Dulce Quelhas and Dr Paula Videira (Portugal) and so forth.



DIAGNOSIS
Funding the first line of CDG diagnosis.

Why? Many CDG cases continue unrecognized or misdiagnosed.

Goal: To improve CDG diagnosis by awareness and appropriate education. Consequently, we expect that the number of suspicious CDG cases will increase.
​
How? By funding samples suspicious of CDG. 

Research

Fomenting the research on rare diseases is essential to pave the way for therapeutic approaches and development, since for most of the patients there is still no treatment. In addition, experience says that any knowledge on the mechanism underlying rare diseases and its pathological manifestations will be beneficial, not only for those patients but also other patients with related pathological symptoms. Our patient-initiated research model:
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Current Projects

Research Area
Translational Research
CDG & Allies – Professionals and Patient Associations International Network (CDG & Allies – PPAIN):

With the help of a broad network of scientists, physicians and patient advocacy groups, we have established a unique, sustainable ,  national and internationally unrivalled infrastructure for investigation and treatment of CDG.

What are the specific objectives?
  • To support accurate and timely diagnosis
  • To promote educational and training initiatives
  • To potentiate active exchange of experiences and best practices within key stakeholders
  • To develop partnerships
  • To empower families as partners through accurate information and educational material
  • To develop sustainability by identifying options for funding
 
Our members:
The CDG & Allies – PPAIN is open to any CDG patient advocacy group, researchers or physician keen to harmonize and improve diagnosis and care received by citizens with CDG. Currently, our members are:
  • Esmeralda Martins (Unidade de Doenças Metabólicas – Pediatria, Centro Hospitalar do Porto (CMIN); 
  • Elisa Leão Teles e Esmeralda Rodrigues (Hospital de São João, Porto);  Luísa Diogo, Paula Gracia, Maria Grazina e colaboradores (Centro Hospitalar da Universidade de Coimbra;
  • Sílvia Sequeira e colaboradores (Hospital Dona Estefânia, Lisboa);
  • Dulce Quelhas (Centro de Genética Médica jacinto de Magalhães – Porto);
  • Paula Videira (Glycoimmunology Group @ CEDOC, Chronic Diseases Research Center, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade Nova de Lisboa) and
  • Vanessa Ferreira (Portuguese  Association for CDG, APCDG).
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Fundraising:

2016

​2015

​2014

A Biocosmetic for CDG Biomedical Research
A Biocometic for CDG Biomedical Research fundraising campaign
By buying NABIA's (more information visit HERE) products you will be contributing to CDG Research projects. So your product will have a purpose even after it has long  disappeared
The official campaign email, available for orders is: biocosmeticforesearch@gmail.com
NABIA is a Portuguese start-up that R&D natural, hand-made biocosmetics and will devote 10% of their sales to fund the research done under the scope of our CDG & Allies – Professionals and Patient Associations International Network (CDG & Allies-PPAIN, for more information visit HERE). 
Updates and developments will be announced in APCDG (Facebook Pages, LinkedIN and Twitter) and ©NABIA (Facebook Page) social media channels. 
CDG TEA

CDG Tea gift with donation campaign

Helping affected children’s and adults, is just a click.
Go to
http://www.apcdg.com/get-involved1.html

Anna Lund, mother to Elmer who suffers from CDG, invented the CDG Tea with the aim of collecting donations to suffer research and increase awareness. She partnered with several CDG Patient Associations. Amongst them the Portuguese Association for CDG (APCDG).  Together, we set up the “CDG Tea gift with donation campaign” is intended to support several research projects. Amongst them :
  • Project leaded by Pf Pascale de Lonlay (CHU Paris - Hôpital Necker-Enfants Malades, France), who aims deciphering the mechanisms behind the stroke like episodes. Additionally, this project intends to evaluate possible therapeutic options. The stroke like episodes put many CDG lives in danger. Thus supporting this project is of high priority. More information: http://portail-web.aphp.fr/mamea/-Ma-M-E-A-.html?rubrique
  • There is an enormous unmet need in the area of CDG immunologic aspects.  The APCDG, wrote a project in partnership with Dr Paula Videira.  We are particularly interested in understanding the mechanisms behind altered immune responses frequently observed in CDG patients. This will improve the quality of life of patients and their families. To learn more about Paula Videira research laboratory : http://cedoc.unl.pt/glycoimmunology/ 
  • Rarecommons a project leaded Dr Mercedes Serrano and driven by patients and family members. This online platform collects reliable, rigorous, and up-to-date information through the participation of families and physicians who are offered the opportunity to complete exhaustive questionnaires with data about CDG. For more information: https://www.rarecommons.org/en​

One CD=One live CDG

Luis Miguel Corrales, the grandfather of a child with an undiagnosed rare condition and the vocalist of this extraordinary project. He has partnered with the APCDG-DMR to launch this music CD with the title “For you, always", comprising well-known Latin American songs.
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Due to the rarity and complexity of CDG, public sector funding for research continues to be limited. To overcome this major barrier, the Portuguese Association for CDG leads several fundraising actions. 

​The funds collected allowed us to:
  • Award Maria Monticelli (Italy) with the Liliana Summer Research Scholarship 2015: This Scholarship provided a grant for 4 months of research, meals, student assurance and trip. Amongst the activities planned, Maria Monticelli performed (1) revisions of literature in topics poorly published, (2) translation of CDG resources from English to Italian, (3) Collaboration with professionals from the recent formed CDG Professionals and Patient Associations Research Consortium (CDG-PPARC) and (4) Introduction to Glycoimmunology laboratory techniques.
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Maria Monticelli, was the candidate awarded with the Liliana Summer Research Scholarship 2015, a merit-based scholarship program focused on Congenital Disorders of Glycosylation (CDG). 


  • Support Diogo Sampaio, graphic designer responsible to produce  relevant CDG community-friendly resources. www.diogosampaio.pt.

  • Support dedicated to Guia Metabólica an online platform for people involved in inborn errors of metabolism (IEM), mainly parents, trying to facilitate the access to information, the contact with professionals and other patients. Importantly, through the comment field Guiametabolica.org offers the possibility to ask medical/nutritional questions, and provides the opportunity of sharing experiences between families.To access the documents in Portuguese visit the Resources section of our website: www.apcdg.com/resources.html

Mercedes Serrano - Guía metabólica: empowerment through health 2.0 tools in inborn errors of metabolism from WTHS


​To learn more about this project, please visit the APCDG Youtube Channel


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  • About US
    • What we do
    • Who we help >
      • Research
  • Resources
    • Rare CDG
    • Publications
    • Guia Metabolica
    • CDG Facts
    • Task Force CDG Communication >
      • PMM2-CDG (CDG Ia)
      • PGM1-CDG (CDG It)
      • ALG6-CDG (CDG Ic)
  • EDUCATION
  • Awareness
    • Get involved World CDG Awareness Day 2019 >
      • Go Social World CDG Awareness Day 19
      • Spread World CDG Awareness Day 19
      • Plan An Event World CDG Awareness Day 19
      • Frame your CDG Awareness Campaign 19
      • Go green! Think CDG! ©Campaign 19
      • Volunteer World CDG Awareness Day 19
      • Press kit World CDG Awareness Day 19
    • Map of events for World CDG Awareness Day 2019
    • CrowdCDG
    • Awareness Day 2018
    • Awareness Day 2017
    • Awareness Day 2016
    • Rare Diseases
  • Community
    • Join Us - Membership
    • CDG Patient Groups
    • Empowerment
  • Events
    • 1st CDG Satellite Meeting
    • Speakers - World Conference on CDG 2019
    • Registrations - World Conference on CDG 2019
    • Poster submission - World Conference on CDG 2019
    • Follow up - World Conference on CDG 19
    • Volunteer Registration - World Conference on CDG 2019
    • Previous Edition World Conference on CDG 2017 >
      • Follow up - World Conference on CDG 17
      • Speakers - World Conference on CDG 17
  • DONATE
  • BLOG