Let me introduce myself by saying that I am the mother of Camilla who was born in 2013 suffering from PMM2-CDG, and Gaia who was born in 2016. We live in Geneva where I worked for CERN between the years of 2011 and 2018.
I am an eclectic person that has always cultivated different passions and roles at the same time. My ongoing studies in Physics led me to CERN while simultaneously working full time in IT, all enriched by the surroundings of an international environment. I also speak Italian, French and English.
Camilla's condition led me to cultivate yet a new passion: bioinformatics. As a person who loves to make a difference and contribute as much as possible for the betterment of the world, I think that being a bioinformatician in the CDG community helps me to do my bit. I also founded the CDGSwissAssociation for which I’ve raised funds by writing two children's stories: “Camilla’sstory” and “CamillaandtheMuddle-HeadedMagician”.
I feel the CDG community to be, more than any other, a close community that truly fosters the sharing of goals, problems and successes and, although spread throughout the world, we are close in spirit.
We are thrilled to have Tatiana as our new team member and we are sure your work will make a significant impact on the CDG Community.
Dear CDG Community, as you know, the 5th World Conference on CDG, which will be held on May 14-16 in Lisbon, is just around the corner!
This year’s theme is “#StandUnited4CDG – Patient Centric approach that drives CDG therapeutic development: Impossible, Is Possible!” and as always we want to include all the Community in this unique event.
We are preparing our exciting agenda and we want to give a voice to your concerns and wishes.
Can you help us?
We have prepared a survey with the main subjects to be presented and we would like to know which are the most important for you.
Can you give us 5 minutes of your time and help us shape this unique and important event?
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:
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.
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 firstname.lastname@example.org we are happy to have you taking over our virtual café.