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In this Issue
- CDG Scientific & Family Conference Recap
- JOIN the CDG Family Support Network
- Emmett's Legacy Fund Awards
- FCDGC Research Publications
- World CDG Organization Resources
- May 16th is World CDG Awareness Day!
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2024 Rare Disease Day Symposium and
CDG CARE Family Conference
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Our community asked and we listened! CDG education centering around Neurology, Bone Health, Growth, Movement Disorders, Epilepsy, Clinical Trials, Research Models, Therapies, Treatments, and more took place at the recent 2024 CDG Scientific and Family Conference, March 1-3, 2024 in San Diego, California.
CDG CARE is very thankful for our partnership with Sanford Burnham Prebys in making this year's conference a huge success!
We are honored to have such committed support from our international Board of Directors and Medical Advisory Board, medical and scientific community experts, sponsors, global collaborating organizations, incredible volunteers, and of course, our CDG families.
Together, we celebrated a full weekend of seeing new faces, developing lasting friendships, reuniting with our rare family, and raising the energy and collaboration among our community to the next level!
We are delighted to share with everyone this memorable “Best Moments” video created from photos that were taken at the recent gathering in San Diego!
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Join the Movement: Uniting CDG Families for
Support, Advocacy, and Change
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Join the CDG CARE Family Support Network and be part of a powerful movement driving change for CDG families worldwide! Since its inception in 2022, our network has been a beacon of support, connection, and advocacy, empowering families like yours to make a difference.
With the CDG community growing rapidly, now is the time to unite our voices. Together, we can amplify our impact and ensure that our needs are heard by medical professionals, researchers, regulatory agencies, and industry leaders. By joining forces on our interactive advocacy platform, you become part of a collective voice that cannot be ignored.
But our network offers more than just solidarity. Through outreach initiatives, polling, and data collection, we pave the way for groundbreaking research and facilitate access to patient-focused treatments. Our GLOBAL CDG MAP alone has already been accessed an incredible 33,000 times, demonstrating the vital role our network plays in providing essential resources.
We're immensely grateful to the 478 CDG families who have already registered. Your support is driving real change in the CDG community. If you haven't joined us yet, we urge you to take a few moments to register today. Your participation is invaluable in shaping a better future for all CDG families. Click HERE to register and add your voice to ours.
Together, we are stronger!
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Emmett's Legacy Fund helps families around the world obtain much needed medical equipment | |
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CDG CARE and the Nguyen family, are thrilled to announce the latest round of funding from Emmett's Legacy Fund, totaling over $30,000!
This vital support will provide much-needed medical equipment and assistance to 14 families across the USA, Canada, Mexico, and Brazil.
Living with CDG presents numerous challenges, and we recognize the daily struggles families face. Our goal is to ease some of these burdens by providing essential resources.
Stay tuned for more details on the specific items supported through Emmett's Legacy Fund in our upcoming social media series, launching this summer on the CDG CARE Facebook Page!
To learn more about Emmett and his life, visit www.lifebyemmett.com and for additional information about PIGA-CDG, please visit www.PIGA-CDG.org
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FCDGC Natural History Study Contributes to the Clinical and Genetic Spectrum of Inherited Glycosylphosphatidylinositol (GPI) Deficiency Disorders | |
The FCDGC Natural History study recently contributed data to a large international clinical report about GPI-anchor deficiency disorders. The study reported on 83 individuals from 75 unique families, including 70 newly reported individuals: the largest single cohort of GPI-anchor deficiency patients published to date. Almost half of the individuals had intractable epilepsy. The majority of individuals experienced delayed or absent speech (95%); motor delay with non-ambulance (64%); and severe-to-profound DD/ID (59%). The study is titled, “The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders” and was published in the journal Brain in March 2004. The full study can be found here: https://doi.org/10.1093/brain/awae056
This image from the report documents how many of each genetic type of GPI-anchor deficiency disorder is included in the new report:
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The FCDGC Natural History study is now an international consortium. We want to thank all of the families who are currently participating in this international study. We anticipate that the coming years will provide us with many additional important insights that will improve the care of all CDG patients. If you are interested in joining, see the FCDGC website for contact details of the study site nearest you: https://www.rarediseasesnetwork.org/fcdgc/sites. | |
Exploring the Neurological Characteristics of PMM2-Congenital Disorder of Glycosylation Using Human In Vitro Neural Models | |
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FCDGC: Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models
PMM2-congenital disorder of glycosylation (PMM2-CDG) is an inherited condition caused by mutations in the PMM2 gene. Most individuals with PMM2-CDG experience neurological symptoms. However, not much is known about the specific brain-related changes caused by PMM2 deficiency.
In this study, researchers explored the neurological characteristics of PMM2-CDG using human in vitro neural models. The team created human induced pluripotent stem cell (hiPSC)-derived neural models to observe changes in neural function and metabolic dynamics.
Results revealed disrupted functioning of PMM2-deficient neuronal networks, as well as widespread changes in metabolite composition, RNA expression, protein abundance, and protein glycosylation. Authors note that these findings introduce potentially critical factors contributing to the early neural issues in patients with PMM2-CDG, paving the way for exploring innovative treatment approaches.
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Exploring Proteomics and N-Glycoproteomics in ALG1-Congenital Disorder of Glycosylation | |
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FCDGC: Dysregulated proteome and N-glycoproteome in ALG1-deficient fibroblasts
ALG1-congenital disorder of glycosylation (ALG1-CDG) is an inherited disorder caused by variants in the ALG1 gene. These variants affect N-glycosylation, which is the body’s process of creating, changing, and attaching sugar blocks to proteins and lipids. However, not much is known about how these variants affect the cellular proteome (proteins expressed in cells) and the process of glycosylation.
In this study, researchers explored proteomics and N-glycoproteomics in ALG1-CDG. The team studied fibroblasts (connective tissue cells) from three individuals with different ALG1 variants.
Results revealed altered protein levels and a reduction of mature forms of glycopeptides. Authors note that these results can help us understand the biology and molecular mechanisms of ALG1-CDG, differentiate CDG types, and identify potential biomarkers.
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World CDG Organization Resources | |
Revisiting the Immunopathology of Congenital Disorders of Glycosylation: An Updated Review
In this paper, we delve deeper into the 12 CDGs that have significant immune implications and are classified as inborn errors of immunity by the International Union of Immunological Societies (IUIS). Immunological issues in PMM2-CDG were also reviewed and potential links between abnormal glycosylation patterns and specific immune issues as well as increased susceptibility to infections were explored.
The implications of this research are vast. Having clear classification systems is one of the main factors for improved clinical management, early diagnosis, and tailored interventions for individuals living with CDG. Moreover, we open new research avenues and discuss new hypotheses that might pave the way for novel therapies.
Access the full article is available here: https://bit.ly/RevisitingCDGimmunopathology
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Resilience in Patients and Family Caregivers Living with Congenital Disorders of Glycosylation (CDG): A Quantitative Study Using the Brief Resilience Coping Scale (BRCS)
The World CDG Organization published the first-ever study evaluating resilience levels in patients and family caregivers living with CDG. This study aimed to offer researchers deeper insights into the specific variables influencing resilience levels among people living with CDG. The primary goal is to help people in developing coping strategies to navigate the daily adversities associated with living with a rare disease. Additionally, we aim to raise awareness about mental health issues and create opportunities for qualitative research in the field of rare diseases.
The main findings of this study demonstrated that both patients and family caregivers have medium levels of resilience. Although the disease can have a different impact on patients and family caregivers’ lives, these were encouraging results as both seem to maintain interesting levels of tenacity and resilience, despite the demanding challenges and complexities of living with this serious condition.
We also found that the CDG genotype, individual's academic degree and professional and social support highly influence people’s resilience levels.
To know more about this investigation, visit https://bit.ly/ResilienceCDG
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Championing Rare Disease Causes Internationally!
The World CDG Organization is thrilled to share some extraordinary news... Vanessa Ferreira has been chosen to represent CDG and other rare diseases on the global stage in two prestigious initiatives: the IRDiRC Task Force and the Mental Health & Wellbeing Partnership Network led by EURORDIS:
About the IRDiRC Task Force: The International Rare Diseases Research Consortium (IRDiRC) is at the forefront of global efforts to improve research and development for rare diseases. Vanessa will be an integral part of the IRDiRC Task Force, focusing on the development of "A Framework to Assess Impacts Along the Rare Disease Patient and Family Journey." This initiative is paramount as it aims to evaluate and enhance the support systems available to rare disease patients and their families throughout their challenging journey. Through collaborative research activities and a comprehensive revision of existing literature, Vanessa will contribute to shaping the future of rare disease care and advocacy.
More information at https://irdirc.org/a-framework-to-assess-impacts-associated-with-diagnosis-treatment-support-and-community-integration-that-can-capture-changes-along-the-rare-disease-patient-and-family-journey/
About the Mental Health & Wellbeing Partnership Network led by EURORDIS Mental health and wellbeing are often overlooked aspects of living with a rare disease. However, they are crucial components of holistic patient care. Vanessa will serve as a key representative within EURORDIS, a leading alliance of patient organizations representing rare disease patients across Europe. By joining the Mental Health & Wellbeing Partnership Network, Vanessa will work to raise awareness, promote understanding, and advocate for improved mental health support tailored to the unique needs of individuals and families affected by rare diseases.
By actively participating in these endeavors, Vanessa not only amplifies the voices of rare disease patients and their families but also ensures that their needs are recognized, understood, and addressed at the highest levels of policy making and research.
More information at https://download2.eurordis.org/publications/EURORDIS-Mental-Wellbeing-Partnership-Network-Adopted-2023.pdf
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May 16th is World Congenital Disorders of Glycosylation (CDG) Awareness Day!
Calling all Families, Caregivers, Communities and Professionals to support CDG!
We invite you to join the 9th annual World CDG Awareness Day Campaign!
World CDG Awareness Day is an annual event that provides international focus for patient groups and families living with CDG. It is an opportunity to raise awareness, influence change, promote timely disease diagnosis, and improve access to better standards of care and management. Since World CDG Awareness Day initially launched in 2016, more than 300 events have taken place around the world.
Through the support of our donors, CDG CARE has raised $1.8 million dollars to date and has funded more than $980,000 toward research contracts to advance the diagnosis and treatment of all CDGs! By coming together to support everyone affected by CDG, we have also been able to assist 77 CDG & NGLY1 families with more than $160,000 in direct patient financial assistance. Our community has so much more to look forward to on the horizon, so we encourage our community to join this effort to raise awareness and funds to advance CDG research, therapies and treatment strategies that will improve the lives of children and young adults diagnosed with CDG.
This year's campaign, Let's Come Together, will run through May 16th. So, if you are organizing or running in a 5K run/walk, asking families to donate to your favorite cause for your birthday, or doing a tribute to a loved one... we have got you covered!
Give Lively is an easy-to-use fundraising platform for nonprofits. Just visit and share CDG CARE’s "Let's Come Together" Fundraising page, and/or create your own campaign by clicking "I Want to Fundraise for This" and create a custom fundraiser for our cause, with your own family photos! To visit our page, and get started, simply Click HERE.
We encourage our social media followers to keep up to date on our progress by 'Liking' the CDG CARE Facebook Page and 'Sharing' our posts as we paint the USA and the entire World GREEN showing support for May 16th – World CDG Awareness Day!
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Order your CDG Awareness Day Swag in time for May 16th!
CDG CARE is excited to unveil our 2024 CDG Awareness Day t-shirt designs! Let's empower, educate, and elevate our communities with the latest CDG CARE merchandise. Two new styles are available now in adult and youth sizes. Wear your official CDG CARE Awareness Day swag and join the movement! Plus, enjoy worldwide shipping from our official store!
All proceeds to 100% to supporting CDG CARE's community programs, advancing our mission and improving the lives of all persons affected by CDG!
To order TODAY, simply click on the link below: https://www.bonfire.com/store/cdg-care/
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