#cdg

The CDG & Allies calls for research based on the needs of people living with rare diseases and their families, as a way to improve the quality of life of people living with Congenital Disorders of Glycosylation (CDG), a group of rare hereditary disorders. This alert comes as part of Rare Disease Day, which was celebrated on February 28.

"Rare Disease Day is a global movement on Rare Diseases with extreme relevance for people living with these types of conditions. Currently, the vast majority of CDG do not have any therapy available; this research is needed. It is a constant fight for equity, for social inclusion, and for people living with CDG to have the best possible quality of life," says Vanessa Ferreira, sister of a person living with CDG, co-founder and researcher of CDG & Allies.

Today, many organizations of people living with rare diseases carry out a form of collaborative activism, which is called "Collective Hybrid Model (CHM)". The CDG & Allies is a unique and pioneering example in our country of this type of activism. Since 2016, several CDG associations, families and experts have united in the "fight against CDG''. CDG families and the associations that represent them, are "experts by experience" with the power to identify urgent needs regarding research and development of therapies. That is, CDG families are not just restricted to live with a diagnosis, they have an active role when it comes to research and development of therapies to meet their needs as well as from other  families and of people living with Rare Diseases", Vanessa adds.

"Parents and family members are abandoned to their fate, living in the incessant search for reliable information about these diseases, about therapies and in the search for answers to their children's needs. They struggle daily with the unattainable - the cure for the disease," says Rosália Félix, mother of a person living with CDG, co-founder of the Portuguese CDG Association. 

"Many of the developments that have taken place in the area of CDG are mainly related to the identification and description of new types of the disease and diagnostic methods." adds Paula Videira, co-founder and researcher of CDG & Allies at NOVA School of Science and Technology (FCT NOVA).

"Today, there is still a delay and failure in diagnosis, lack of information about rare diseases in general, lack of awareness from professionals about this group of diseases, lack of availability of quality care, scarcity of social benefits, reduced autonomy and difficulty integrating into the world of work and the social and family environment," concludes Rosália Félix.

CDG are a group of over 170 inherited diseases that affect glycosylation, a process by which all human cells accumulate long-chain of sugars that are attached to proteins or lipids (fats), essential for many biological functions.These diseases are highly disabling, with a high pediatric mortality rate and a significant negative impact on the quality of life of patients and families.

For more informations see: https://worldcdg.org/ 

CDG & Allies alerts to the importance of stimulating research to improve the quality of life of people living with Congenital Disorders of Glycosylation (CDG) and calls for a focus on people-centered research in collaboration with keystakeholders. This alert comes as part of World Day of the Sick on February 11th.

"Nowadays, there is still a lot left to do when it comes to research and development of therapies for Congenital Disorders of Glycosylation (CDG). As a response to this urgent need, in 2016, we launched CDG & Allies," says Vanessa Ferreira, sister of a person living with CDG, co-founder and researcher of CDG & Allies.  

CDG & Allies is an international research network based at the Faculty of Science and Technology at the New University of Lisbon, and whose 3 main pillars are research, awareness raising, and capacity building. "Launching CDG & Allies, was like climbing Everest without oxygen or guides. Today we take an active role as partners with professionals, shaping research agendas and leading research projects in areas that families consider a priority, and consequently, researchreflect the needs, experiences and perspectives of CDG families”, explains Vanessa Ferreira. 

Rita Francisco, researcher, highlights that: "The uniqueness of this thesis is due to the sustained and continuous involvement of the CDG community - families, physicians and researchers - in the advancement of biomedical knowledge in CDG. The CDG community came together and collaborated closely and together we identified needs, defined priorities, and built solutions. In addition, we generated new biological and clinical knowledge with special emphasis on the immunological involvement of CDG patients".

"Continuing to lead research that increases current knowledge on aspects, such as immunology in CDG, will allow us to develop effective and urgent treatments that are key to a longer and healthier life for people living with CDG and their families," concludes Vanessa Ferreira.  

CDG & Allies will present the results of the study "Novel insights into biological and clinical research on Congenital Disorders of Glycosylation through a people-centric approach", on February 16th, in an online format, aiming to share and discuss scientific knowledge in order to advance science to improve the quality of life of people living with CDG. 

CDG are a group of more than 150 inherited diseases that affect glycosylation, a process by which all human cells accumulate long-chain sugars that are attached to proteins or lipids (fats), essential for many biological functions. These diseases are highly disabling, with a high pediatric mortality rate and a significant negative impact on the quality of life of patients and families. 

For more informations see: https://www.researchcdg.com/ and https://worldcdg.org/ 

CDG CARE and Sanford Burnham Prebys are hosting the CDG/NGLY1 Scientific and Family Conference, which will take place between February 25 and 27, 2022, in San Diego, California, and will focus on "CDG Models and Therapy”.

The CDG/NGLY1 Conference first took place in 2016 and has been held every two years since then.  

"Every biennial collaborative conference is unique and current with focus areas relevant to Congenital Disorders of Glycosylation (CDG) and NGLY1 deficiency at that particular point in time.”, refers Andrea Miller, founder of CDG CARE.

She adds, "The uniqueness of this event is bringing the science and ideas/findings that are being performed in the labs and clinics directly to the patients and families who are able to attend.”

Tailored for medical professionals, researchers and scientists in the field of CDG & NGLY1, but also for patients, families and caregivers, this conference combines patient-centred science and real-world strategies for patients and families living with a CDG.

It features a diversity of speakers, ranging from "faculty of academic medical centers and private laboratories across the USA and abroad, to experienced industry experts, clinicians and devoted community therapists speakers. Among the speakers, there are also advocacy representatives and patient groups. It is an unique opportunity for parents and caregivers to share a wealth of knowledge of their experience in research, education and much more.", says Andrea.

The sessions have a plenty crucial topics such as: "Basic Science of Multiple CDG"; "Models of Glycosylation Disorder"; "CDG and NGLY1 Clinical Care Management"; "Research: current studies, opportunities for patients and future prospects"; "Innovative and recommended therapies", among others.

You can consult the program at https://bit.ly/3z5oPR9

Prof Paula Videira is a researcher at NOVA University and the co-founder of the international network CDG & Allies - PPAIN.

She is an expert in glycoimmunology (which studies the role of sugars in immunologic response) and her main focus is the study of the role of glycosylation defects in immunological symptoms and find new therapies in this area.

She gives us HOPE!

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.

She gives us HOPE!

The 2nd Edition of the CDG Virtual Coffees is fast approaching!

💚CDG: A Community of HOPE!💚  

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.