Dr Stepahnie Grunewald is THE CDG Medical Expert in the United Kingdom. She explains how is her flow of the diagnosis of a CDG and the patient follow-up and shares how she sees the future of the CDG diagnostic landscape.
The 2nd Edition of the CDG Virtual Coffees is fast approaching!
What is it about?Stroke-like episodes and seizures in CDG When?December 11, 2020, at 4 p.m (CET) With who?Dr Mercedes Serrano from Sant Joan de Déu Hospital
Today, our interview features Julie Bonache, a CDG Mom behind the French association for CDG "Les P'tits CDG". She shares how the CDG diagnosis changes her life and explains which are advantages of belonging to a patient group.
She gives us HOPE!💚
#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.
Paola de Haas is one of the young faces of CDG Research 👩🔬 at the Radboud university medical center (Nijmegen, Netherlands). She shares that she dedicates her work to develop CDG models and study immunology in CDG. Currently, she is working with a zebrafish CDG model to understand the mechanisms behind the immune issues observed in CDG patients. With this work, she is contributing to what she thinks is the main need in CDG research: to build as much knowledge as possible that in the future can be translated into therapeutic options.
She gives us HOPE!💚
# CDGResearch #CDGCommunity #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.
The research group U746 CIBERER from Madrid led by Dr. Belén Pérez just published very promising results of aa possible therapeutics strategy for PMM2-CDG. Even though this is the most frequent Congenital Disorders of Glycosylation (CDG) type affecting about 1000 people worldwide, there is still no treatment for this condition.
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.
Dr. Bélen's team evaluated the effect of proteostasis regulators in the stability and activity of several variants of PMM2 and showed their potential to rescue the PMM2 defect. This study, published in Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, showed that treatment of cellular models with celastrol, one of the molecules under study, increased both the quantity of protein and its activity. This was accompanied by an increase in the levels of protein and gene expression of Heat Shock Proteins (Hsps). In fact, the Hsp90 seems to be the main responsible behind PMM2 stabilization.
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.
Reference:
Proteostasis regulators as potential rescuers of PMM2 activity. A.Vilas, P.Yuste-Checa, D.Gallego, L.R.Desviat, M.Ugarte, C.Pérez-Cerda, A.Gámez, B.Pérez. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. doi: 10.1016/j.bbadis.2020.165777
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 (NORD®) 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.
Next to every great CDG clinical expert?⚕️?⚕️, there is a quickly adapting, always learning and never-giving up CDG Family!
?♀️This is Julia ?She is a CDG Mom ?♀️She is a CDG advocate ?She thinks “one of the most magical things is seeing our families meeting with other families and then sharing experiences”
She gives us HOPE!?
?Please, subscribe the ❗️World CDG Organization Youtube Channel at https://www.youtube.com/watch?v=-6sifd38WvU❗️ 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.
