Education

Educational Program of Excellence on CDG
*** 2018 Events ***
Workshop para Famílias e Profissionais CDG 
ATENÇÃO! - O LOCAL DO WORKSHOP FOI ALTERADO, SENDO O QUE APRESENTAMOS ABAIXO
Where/Onde: Instituto de Genética Médica Dr Jacinto de Magalhães,  Porto
When/Quando: 17. 03.2018
As Inscrições estão agora FECHADAS/Registrations are now CLOSED
Consulte o programa provisório do evento abaixo/ Download the provisional event's agenda below
cdg_workshop_porto_março_2018_programafinal.pdf
File Size: 1122 kb
File Type: pdf
Download File
Inscrições para "Workshop para Famílias e Profissionais CDG "- Porto, Portugal /Registrations for the "Workshop CDG Families & Professionais"- Porto, Portugal 
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​Note: This is an event initiated by the Portuguese Association for CDG (APCDG). Our non-profit organisation, relies solely on donations in order to continue our projects. 
 If you would like to see more projects like this, please consider to donate in the Get involved section of our website.

Contacts/Contactos: rita.francisco.28@gmail.com/sindromecdg@gmail.com

Steps for Registration/Passos para inscrição:

1. Complete a ficha de inscrição abaixo/ Complete the registration form below
2. Faça a transferência para os dados bancários indicados do valor simbólico da inscrição (8€ por pessoa), sendo que terá direito a participar em todas as sessões científicas, almoço e coffee break/ Transfer the registration fee (8€/per person)  to the bank details below. Registration fee includes participation in all scientific sessions, lunch and coffee break
3. Envie o comprovativo de pagamento para rita.francisco.28@gmail.com/ Send the receipt of your payment to rita.francisco.28@gmail.com
4.  Welcome to the /Bem-vindo(a) ao "Workshop para Famílias e Profissionais CDG "- Porto, Portugal

    Inscrição para o Workshop para Famílias & Profissionais CDG/ Registration for the Workshop for CDG Families & Professionals 

    Valor da inscrição/Registration fee: 8€ por pessoa/per person
    A inscrição neste Workshop inclui acesso a todas as sessões, almoço e coffee break/ The registration fee includes access to all sessions, lunch and coffee break
    De forma a que o seu registo seja considerado VÁLIDO, por favor, envio o comprovativo de pagamento do valor da inscrição para rita.francisco.28@gmail.com. Os dados bancários encontram-se abaixo.
    To make your registration VALID, please send receipt of your fee to rita.francisco.28@gmail.com. Find bank data below.
    Nome da conta bancá/ACCOUNT NAME: APCDG-DMR (Associação Portuguesa CDG e outras Doenças Metabólicas Raras)
    Nome do Banco/BANK NAME: Banco Português de Investimentos (BPI)
    NIB: 0010 0000 5149 8770 001 14
    IBAN: PT50 0010 0000 5149 8770 001 14
    SWIFT/BIC: BBPIPTPL
    Morada/ADDRESS: Rua António Andrade, 1138-B, 2820-287 Charneca da Caparica
    País/COUNTRY: Portugal

Workshop dedicated to CDG will be held in the Faculdade de Ciências e Tecnologia (FCT), Universidade NOVA de Lisboa during the World CDG Awareness Day 2017 celebrations (May 16th).

Read the press release below (in Portuguese):
pr_workshop_dia_16_de_maio_2017.pdf
File Size: 317 kb
File Type: pdf
Download File
Workshop "How Patient Centricity shapes the Future of Healthcare in Portugal: Results from CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN)!"- Caparica, Portugal, 16th May 2017 (Tuesday) 
​***REGISTRATIONS are now CLOSED***
Register HERE.

Detailed information and tentative program can now ´be downloaded:
how_patient_centricity_shapes_the_future_of_healthcare_in_portugal_worldcdgday_2017.pdf
File Size: 705 kb
File Type: pdf
Download File
.Registrations for the Workshop "How Patient Centricity shapes the Future of Healthcare in Portugal: Results from CDG & Allies - PPAIN!"- Caparica, Portugal HERE. They are FREE of charge.

​Note: This is an event initiated by the Portuguese Association for CDG (APCDG). Our non-profit organisation, relies solely on donations in order to continue our projects. . If you would like to see more projects like this, please consider to donate in the Get involved section of our website.

For further questions, please contact: rita.francisco.28@gmail.com

Register now HERE.

Steps for Registration:

1. Go to HERE
2. Click on REGISTER
3. Select the number of tickets and then the button CHECKOUT
4. You will have 8min to complete a short form with your data
5. Click on Complete REGISTRATION
6. Welcome to the "How Patient Centricity shapes the Future of Healthcare in Portugal: Results from CDG & Allies - PPAIN!"at FCT, Campus da Caparica

CDG Tutorials 

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We deeply acknowledge, all speakers from the 2nd World Conference on CDG, for sharing their knowledge and slides. 

Summary Second World Conference on CDG: 
http://www.guiametabolica.org/noticia/alteraciones-mecanismos-enfermedades-centran-segunda-conferencia-mundial-sobre-defectos
Videos Second World Conference on CDG 2015: 

Please visit: soon available
IMPORTANT, PLEASE READ IF YOU USE OUR EDUCATIONAL RESOURCES:
All our work is publicly available to help the CDG community. Importantly, our educational resources are  done by professionals and volunteers. If you use these CDG tutorials, please refer http://www.apcdg.com/education.html as source of information. This, help us to ensure that families and professionals know the original source of information. Additionally, we are constantly updating the information, thus by referring http://www.apcdg.com/education.html  all community will be receiving updated information. THANKS!
Slides 2nd World Conference on CDG:

Welcome.

Jaak Jaeken
Centre for Metabolic Diseases, University Hospital Gasthuisberg Leuven, Belgium.

Unraveling neurologic aspects from a cross-sectional study.

Mercedes Serrano
Child Neurologist and CIBERER researcher at the San Juan de Déu Children's Hospital, Barcelona, Spain.

Intellectual disability in CDG.

Marc Patterson
Chair of the Division of Child and Adolescent Neurology at Mayo Clinic and  Professor of Neurology, Pediatrics and Medical Genetics at Mayo Clinic College of Medicine, USA.

The cerebellar involvement in CDG. 

Rita Barone
Department of Pediatrics - Child Neurology University of Catania, Catania - Italy.

Out of the Undiagnosed Diseases program:
​Early Results from the Clinical and Basic Investigations into Known and Unknown CDG’s, the USA experience.

Lynne A. Wolfe
MS, CRNP Associate Investigator Undiagnosed Diseases Network, USA.

The major clinical findings concerning the skin manifestations in CDG patients.

Daisy Rymen
Centre for Human Genetics, University of Leuven, Leuven, Belgium.

Endocrine aspects in PMM2-CDG:
Diagnostic approach and proposed management.

Miski Mohamed
Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands.

CDG genetics.

Dulce Quelhas
Centro de Genética Médica Jacinto de Magalhães, Porto, Portugal.

CDG diagnosis:
Strengths, weaknesses, and the road forward.

Monique Van Scherpenzeel
Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands. 

Towards the structural analysis of aberrant glycosylation: Focus on CDGs.

Zuzana Pakanova
Institute of Chemistry, Department of Glycobiology, Central Analytical Laboratory, Slovak Academy of Sciences, Slovakia

How can a genetic counselor help CDG families?
Lessons from the Undiagnosed Diseases program.

Ellen Macnamara
ScM, GC Associate Investigator Undiagnosed Diseases Network, USA.

How GlyMAP can boost discovery of new CDGs?

Lars Hansen
Faculty of Health Sciences, University of Copenhagen, Denmark.

Helping siblings when a brother or sister's has special needs.

Regine Scelles
Psychology department, Université de Rouen, France.

CDG Challenges and choices.

Barbara Vulso
Ireland& Italy CDG patient advocate & mother.

Portuguese Association for CDG:
Addressing the needs of the community.

Vanessa Ferreira & Diogo Sampaio
CDG Portugal & Graphic Designer, Portugal

How liver transplantation changed my life?

Fiona Waddell
CDG, Netherlands.

News from CDG USA patient group!

Andrea Berarducci
CDG USA patient advocates & mother.

Dancing at the hands of Morgan Webb Liddle.  

Morgan Liddle and her followers
.Grade 1A Para-Equestrian, Australia.

Which parameters must to be checked in order to avoid thrombotic complications in CDG patients?

Maria Eugenia de la Morena-Barrio
Centro Regional de Hemodonación, Ronda de Garay, Universidad de Múrcia, Spain.

Clinical manifestations and management in adults with congenital disorders of glycosylation.

Ágata Fiumara
Associate professor, pediatric clinic, University of catania, Italy.

Portuguese Research Network of Professionals and Patients Association for CDG: start small, think big.

Paula Videira
Assistant Professor, Medical Sciences Faculty, Chronic Diseases Research Center, Lisbon, Portugal.

Many are rare: a reference campaign for rare diseases.

Dafne D. Horovitz
Medical genetics at Instituto Fernandes Figueira, Brasil.

Learning about human iPSC models for
glycosylation-related disease.

Stephen Dalton
Department of Biochemistry and Molecular Biology, University of Georgia, USA.

The Undiagnosed Diseases program:
​Rarer CDG’s Major clinical findings and management.

Lynne A. Wolfe
MS, CRNP Associate Investigator Undiagnosed Diseases Network, USA.

Role of the Conserved Oligomeric Complex (COG) and its partners in glycosylation in human cells.

Vladimir V. Lupashin
University of Arkansas for Medical Sciences Department of Physiology and Biophysics, USA.

TMEM165 a new player in CDG.

François Foulquier
Unité de glycobiologie structural et fonctionnelle (UGSF), CNRS/Université Lille, France.

From diagnosis to action.

Julia Boonnak
CDG UK charity representative & mother, UK

CDG Discovery, Diagnosis and Outreach.

Hudson Freeze
Director, Genetic Disease Program; Professor of Glycobiology, Sanford-Burnham Medical Research Institute, USA.

Synapse Glycosylation Drives CDG Neurological Outcomes: Insights from an Animal Model.

Patricia Jumbo Lucioni
Postdoctoral Research Scholar, Department of Biological Sciences, Vanderbilt University, Nashville.USA.

Metabolomics and CDG.

Antonio Pineda-Lucena
Structural Biochemistry Laboratory, Centro de Investigación Príncipe Felipe, Valencia, Spain.

Glycomine:
Unravelling a new therapeutic approach for PMM2-CDG.​

Agnes Rafalko
Structural Biochemistry Laboratory, Centro de Investigación Príncipe Felipe, Valencia,

Successful dietary therapy in three CDG types and outlook for future therapies.

Eva Morava
Professor in pediatrics, Tulane University Medical School, USA.

Hematopoietic stem cell transplantation to correct neutropenia and lymphopenia in a new type of CDG.

Asbjorg Stray-Pedersen
Department of Medical Genetics, Oslo University Hospital, Norway & Center for Human Immunobiology, Immunology Allergy Rheumatology, Texas Childrens Hospital , USA

A foster plan for the orphans.

David Cassiman 
Department of Hepatology and Metabolic Center University of Leuven, Belgium.

The management of major gastrointestinal findings in CDG. 

Stephanie Grunewald 
Consultant Metabolic Medicine at Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
Videos First World CDG conference 2013:  
 
Summary First World CDG conference: 
- Program
​- Videos
Copyright © BIOcomuniCA'T. "First World CDG Conference", an event coordinated by the Portuguese Association for CDG in partnership with associations and/or country CDG patient advocates. Videos sponsored by FoG (Canada). All rights reserved.

3ND WORLD 
CONFERENCE CDG 2017
Shaping The Future For CDG
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Leuven, Belgium - 15 and 16 July 2017

In full collaboration between CDG patient advocacy groups and the Center for Metabolic Disease, University Hospital Gasthuisberg. We successfully organised several events with a national, regional and international scope.

Social impact of congenital diseases of glycosylation (Vanessa Ferreira)
Please visit the APCDG Youtube Channel at: https://www.youtube.com/channel/UCmdrRfzavgJoU67NUf68xpg

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