Blog Archives - APCDG - Congenital Disorders of Glycosylation

3rd World Conference on CDG update

16/1/2017

#WorldConferenceCDG Registrations are planned to open until the end of January 2017. We are finishing last details of importance for this unique international scientific gathering! Talk to you, soon!!!

For updates, please keep an eye HERE.

Thank you!

ALL CDG Families can become Reseachers

13/1/2017

#CDGResearch Did you know you can advance CDG biomedical research in under 15min? How? Well, fill in the CDG & Liver eQuestionnaire for Families until 15/01/2017. It is available in 4 languages at http://www.apcdg.com/wg-cdg--liver.html . This eQuestionnaire is for ALL CDG Patients – NO Exceptions. NO age limit. Not having been diagnosed or even suspected to have liver disease is also an INCLUSION criteria. Only together will we make a difference! Thank You!

ALL CDG Families - We need you Help until 15/01/2017!

13/1/2017

#CDGResearch LAST deadline extension for CDG & Liver eQuestionnaire (http://www.apcdg.com/project-cdg--liver.html ) completion until 15/01/2017. We are still under our goal of 200 participants! Haven’t had a chance to complete it? Do it NOW! ALL Patients, ALL Ages, with or without liver clinical history. Take 15min to share your knowledge! Available in 4 languages. Thank YOU!

Patient as Research Partners

11/1/2017

#RareDiseasesNews: Patients as partners in Research - Do we want it? YES When do we want it? NOW
#PatientInvolvement #PatientledResearch #CDGandAllies http://bit.ly/2iHF4wx

International Thank you Day #CDGCommunity

11/1/2017

Today is the International Thank You Day, so let's all be Grateful for all the Rare People in our lives!
What are you grateful for? #CDGCommunity

CRISPR - Gene Editing Technology gives hope to finding Cures

9/1/2017

#RareDiseasesNews: CRISPR - a #GeneEditing technology - was one of the biggest science stories in 2016. So, here is a simple guide to it! http://bit.ly/2iMZGCp #RareCures

2nd Deadline Extension for the CDG & Liver eQuestionnaire for Families: Make your Voice Heard!

9/1/2017

#CDGResearch Liver affectation and CDG = Unsolved puzzle. This is a questionnaire for ALL CDG Patients. ALL Ages with Known or unknown liver disease.
Available in 4 languages at http://www.apcdg.com/project-cdg--liver.html.
Take 10-15min to advance CDG Research! Help us put the pieces together.

CDG&Allies-PPAIN have built a family-targeted eQuestionnaire to improve knowledge. Only experts (YOU) can help us understand the natural history of CDG – Let’s start with the Liver.
Contribute until 12/01/2017.
Thank YOU!

Genetics in 2016: Breakthrough, Breakdown, and Bridge

6/1/2017

What made science news in 2016?

Genetics in 2016: Breakthrough, Breakdown, and Bridge gives you a RARE and broad overview of the year http://bit.ly/2hgfem1

2017 - The year of Difference Acceptance & Ability Redefinition

6/1/2017

Let 2017 be the year of the Celebration of Difference and of the Redefinition of Ability. This #ProjectoAccept_ability is the work of a portuguese Photographer.

Sometimes images speak more elonquently! Happy 2017!! http://bit.ly/2ikiYTa

Gene Therapy - What happened in 2016?

6/1/2017

" For a few lucky patients, 2016 was the year when #GeneTherapy turned from promises to cures." What does the Future hold?

Let's start by understanding where we stand http://bit.ly/2iLdRwb