4th WORLD 
CONFERENCE CDG 2019

The CDG road: from diagnosis to therapies!

Let's Go down this Road Together?
Start scrolling down!

INDEX
​1. Event Highlights/ 2. Photo Gallery/ 3. Speakers Presentations/ 4. Book of Abstracts/ 5. CDG Interviews/ 6. Next World Conference edition (2021)

Event Highlights

 Over 200 participants JOINED US for the 4th World Conference on CDG.
Were you one of them?
Either you were there or if you couldn't make it, see the top highlights of this unique event!

Photo Gallery

These were some of the 4th World Conference on CDG (recorded!) best moments!

What was your favourite?

We know we're biased, but we just loved every single moment!

Speakers Presentations

We deeply acknowledge all speakers of the 4th World Conference on CDG and 1st Satellite meeting for sharing their knowledge and slides​.

Thank you!
The motto for this 4th edition of the World Conference on CDG was the drug development process. 

This animation explains very briefly and simply the process of developing and making therapies available to patients.

To be involved, you must be informed!
State of the art for CDG Nomenclature
Carlos Ferreira
MD, National Human Genome Research Institute (NHGRI) - USA
Biomarkers as an invaluable tool for CDG diagnosis and therapeutic advances  
Stephanie Grünewal
MD, Great Ormond Street Hospital / Institute for Child Health University College of London - UK
Biobanks: Is it only about storing samples?
Carlota Pascoal
PhD student, UCIBIO-NOVA, CDG & Allies- PPAIN - Portugal
CDG Connect
Holly Carmichael
CDG Mom and Patient Advocate,,CDG CARE
CDG Natural History study sponsored by Glycomine
Eva Morava
MD, PhD, Mayo Clinic, USA
Frontiers in Congenital Disorders of Glycosylation -
​a Natural History project
Christina Lam
MD, Seattle's Children Hospital, USA
NIH CDG Natural History study
Lynne Wolfe
Nurse,National Institute of Health (NIH), USA
Available soon!
How can Systems Biology boost therapy development for CDG?
Teresa Sardon
Anaxomics, Spain
Artificial intelligence (AI): An introduction
Gonçalo Valadão
PhD, Autónoma University, Portugal
Artificial intelligence and dysmorphology at the service of PMM2-CDG
Antonio Martinez-Monseny
MD, Sant Joan de Déu, Spain
Application of AI in diagnostics of GPI biosynthesis defects: advances and pitfalls
Alexej Knaus
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Germany
Drug repurposing for rare diseases
Rick Thompson
CEO of Findacure, UK
How can metabolomics accelerate CDG and related diseases therapies?
Antonio Pineda
PhD,Director Centro de Investigación Médica Aplicada, Universidad de Navarra, Spain
The yeast and CRISPR/Cas to help therapeutic discovery on CDG
François Foulquier
PhD, University of Lille, France
Zebrafish model for PMM2-CDG
Paola de Haas
PhD student, Radboud university medical center Nijmegen, The Netherlands
Mouse Model for PMM2-CDG
Andrew Edmonson
MD, PhD, Children's Hospital of Philadelphia, USA
Drug Approval and Market Access:Can Patients make a difference?
Alastair Kent
Expert Patient, UK
How did Cerecor did it?
Perry Calias
CEO of Cerecor, USA
​
How can the patient community be empowered and involved in drug development
Inês Alves
Expert Patient,EUPATI Portugal and ANDO Portugal, Portugal
Challenges in CDG Diagnosis
Dorinda da Silva
PhD, IP Leiria, CDG & Allies-PPAIN, Portugal
Opportunities for CDG diagnostics
Dulce Quelhas
Instituto de Genética Médica Dr. Jacinto de Magalhães, Portugal
Genetic modifiers for PMM2-CDG diagnostics
Giuseppina Andreotti
PhD, Instituto di Chimica Biomolecolare, Italy
Movement disorders as clinical features of CDG
Rita Barone
MD, PhD, University of Catania, Italy
ImmunoCDGQ results
Rita Francisco
PhD student, UCIBIO-FCT, CDG & Allies-PPAIN
Studying Immunology in CDG
Carlota Pascoal
PhD student, UCIBIO-FCT, CDG & Allies-PPAIN
Building a PROM for CDG
Carlota Pascoal
PhD student, UCIBIO-FCT, CDG & Allies-PPAIN
CDG as a research model
Sandra Brasil
PhD, UCIBIO-FCT, CDG & Allies-PPAIN
PMM2-CDG guidelines and standards of care
Ruqaiah Altassan
MD, ​King Faisal Specialist Hospital and Research Centre, Saudi Arabia
How CDG impacts patients and family members 
Luísa Barros
PhD, Faculty of Psychology, University of Lisbon, Portugal
Liposomes for CDG
Patrice Rioux
Chief Medical Officer, Glycomine, USA
Dietary Therapies
Eva Morava
MD, PhD, Mayo Clinic
Galactose clinical trial
Peter Witters
MD, UZ Leuven, Belgium
Is drug repurposing the future?
Mercedes Serrano
MD, PhD, Hospital Sant Joan de Déu
Key lessons from PMM2-CDG PerlQuest
Ethan Perstein
PhD, Perlara, USA
MetabERN - A european reference network for rare metabolic diseases
Maurizio Scarpa
MD, PhD,Director, Coordinating Center for Rare Diseases, Udine University Hospital, Udine, Italy
Share4Rare
Begonya Nafría
PhD, Hospital Sant Joan de Déu
CDG International Networks vs The Tyranny of Distance  
David Coman
MD, Queensland Children’s Hospital , Australia
Assessing CDG needs and solutions for future therapies
CDG & Allies- PPAIN Team 
Results of a worldwide study made possible by CDG Families and Professionals
Lessons from Bella
Heather Conneran
CDG Patient Advocate, USA
Available soon!

Book of Abstracts

Winner of the poster session: Elodie Lebredonchel

CDG Interviews = CDG Stories

COMING SOON!!!

2021 World Conference Edition: So, WHERE do we meet again?

The venue for the 5th edition of World Conference on CDG for Families & Professionals already has a venue - It's Lisbon AGAIN (the portuguese capital). Because a winning team doesn't change (adapted from the portuguese expression "Equipa que ganha, não se mexe") ..

For the next edition we will count with the help of NOVA University, which has been a close collaborator of CDG & Allies - PPAIN (learn more HERE).

Hope to see you all again in Lisbon!
Here are a few pictures so that you can get acquainted with the portuguese mood!

Updates will follow suit!
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/resources.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/resources.html​ all community will be receiving updated information. THANKS!

World Conference on CDG for families and professionals is an initiative of the Portuguese Association for CDG (APCDG)

Newsletter