Congenital Disorders of Glycosylation (CDG) are caused by defects in the cellular machinery responsible for making and altering sugars and attaching them to proteins and lipids. There are over 140 different CDG types.
đCDG: A Community of HOPE!đ
RosĂĄlia Ferreira is a Super CDG Mom and advocate. She highlights the difficult road for Liliana's sweet and sour diagnosis. She shares the main worries and wishes as a mom (autonomy, management and curative therapies) and the benefits of belonging to a CDG association.
She gives us HOPE!đ #CDGCommunity#CDGDiversity#RareNotAlone
Congenital Disorders of Glycosylation (CDG) are caused by defects in the cellular machinery responsible for making and altering sugars and attaching them to proteins and lipids. There are over 140 different CDG types.
The World CDG Organization (WCDGO, www.worldcdg.org), the international patient-led CDG & Allies -PPAIN research network (www.researchcdg.com) and the Portuguese Association for CDG are happy to announce the opening of TWO NEW research projects:
1. The development of a quality of life tool, and;
2. The assessment of vaccination and/or infection-related coping skills and actions among a rare disease community.
Our CANDIDATES PROFILE:
1. Psychology or social sciences background;
2. Interest and know-how in semi-structured interviews, quality of life questionnaires and qualitative data analysis;
3. Currently doing MSc's (preferential).
Our PROPOSAL:
1. Identify stretagies and coping skills and/or access quality of life;
2. Working in the field of rare diseases;
3. Collaborating with an active and empowered patient community.
The WCDGO, CDG & Allies-PPAIN and APCDG are non-profit organizations that work in close contact and collaboration with a multi-disciplinary team that includes families and experts from all around the World.
Predicted outcomes for these projects are:
High-level scientific publications and posters at congresses, such as a unique opportunity to present at an upcoming conference with worldwide outreach;
To be integrated into an international network and increase your career visibility;
To create lay-language resources and activities;
Recommendation letter.
Note that both projects can be done remotely and that the candidates will benefit from an inclusive and motivational working environment.
PMM2-CDG is caused by a genetic defect in the phosphomannomutase 2 (PMM2) protein that causes loss of function of this protein, responsible for several and diverse clinical presentations. The main reason for this lack of function is the incorrect folding when the protein is produced.
This proof of concept is a very exciting development for the CDG community as it demonstrate the potential of proteostasis regulators to treat PMM2-CDG by stabilizing the PMM2 protein.
At this time of crisis and with the health, safety and well-being of patients and caregivers as its top priorities, the National Organization for Rare Disorders (NORDÂź) launched its COVID-19 Critical Relief Program to provide much-needed assistance to members of the rare community affected by the COVID-19 pandemic. The program provides financial relief that may be utilized to support critical, non-medical needs.
Through the new program, NORD will provide financial assistance to eligible patients, covering up to $1,000 annually. It provides funds for essential expenses including, but not limited to unexpected utility expenses; cellular or internet service; emergency repairs to car, home or major appliances; and rent or mortgage payment assistance. Interested rare disease patients and families can reach out to NORD to find out if they meet eligibility requirements.
?ââïžProf. David Coman is a Metabolic Pediatrician making sure CDG families and patients from Down under are well-cared for?. He is hopeful about the future of CDG patients and highlights the fact that we are now openly discussing different treatments for CDG. ??
These exciting developments are only happening because of devoted professionals like Prof Coman.
He gives us HOPE!?
?Please, subscribe the âïžWorld CDG Organization Youtube Channel at bit.ly/CDGYoutube to get this and other exciting content?
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Congenital Disorders of Glycosylation (CDG) are caused by defects in the cellular machinery responsible for making and altering sugars and attaching them to proteins and lipids. There are over 140 different CDG types. David Coman Miligrama - Comunicação em SaĂșde
Next to every great CDG clinical expert?ââïž?ââïž, there is a quickly adapting, always learning and never-giving up CDG Family!
?ââïžThis is Julia ?She is a CDG Mom ?ââïžShe is a CDG advocate ?She thinks âone of the most magical things is seeing our families meeting with other families and then sharing experiencesâ
She gives us HOPE!?
?Please, subscribe the âïžWorld CDG Organization Youtube Channel at https://www.youtube.com/watch?v=-6sifd38WvUâïž to get this and other exciting content?
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Congenital Disorders of Glycosylation (CDG) are caused by defects in the cellular machinery responsible for making and altering sugars and attaching them to proteins and lipids. There are over 140 different CDG types.
