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In this Issue
- Global Day of Giving
- 2024 CDG Scientific & Family Conference
- News from CDG CARE and the FCDGC
- Research Updates & Publications
- World CDG Organization Education & Resources
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We make a living by what we get.
But we make a life by what we give.
-Winston Churchill
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Join CDG CARE on Tuesday, November 28th and be part of something truly special! The annual Global Generosity Movement is here, and we're thrilled to invite you to our 6th Giving Tuesday celebration. It's a day dedicated to making a real impact, to stand together for causes close to our hearts, and to unleash the power of generosity for a better world.
As we enter the season of giving, we need your support to make 2023 the year we remember. CDG CARE's Giving Tuesday campaign has achieved remarkable results, with over $130,000 raised to date. This incredible support has directly benefited CDG CARE's awareness, education, and research initiatives.
This year, we extend a heartfelt invitation for you to stand with our rare community. Help us reach our ambitious campaign goal of $20,000 and give the gift of hope to families affected by CDG. Remember, even the smallest donation can create a monumental impact for our families. Your contribution matters more than you can imagine!
Here are three easy ways you can GIVE this year:
1️⃣ Visit our dedicated Giving Tuesday fundraising page by Clicking HERE
2️⃣ Visit our website donation page to give through PayPal by Clicking HERE
3️⃣ Send a check made payable to CDG CARE, write "Giving Tuesday" in the memo, and mail to:
CDG CARE
P.O. Box 38832
Colorado Springs, CO 80937
Your support can make a profound difference in the lives of those affected by CDG. Let's come together to create a brighter future. Mark your calendars for November 28th, and let's make this Giving Tuesday unforgettable. Thank you for being a part of our journey towards positive change!
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Time is Running Out to Join Us at the
2024 CDG Scientific & Family Conference!
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We want to remind our CDG Community that the clock is ticking, and the countdown to the 2024 CDG Scientific & Family Conference is on! This year's event, "CDG Models and Therapy," promises to be an educational and inspirational gathering of CDG medical professionals, researchers, and families, all under one roof!
Organized by CDG CARE in collaboration with the Sanford Children's Health Research Center and Sanford Burnham Prebys, this conference is set to take place from March 1 - 3, 2024, at the stunning Paradise Point Island Resort in the picturesque Mission Bay area of San Diego, California.
For those wondering what it's like to immerse yourself in a weekend surrounded by the brilliant research minds from the global CDG community and share that experience with a caring and compassionate group of like-minded parents, we cordially invite you to click the link above and witness the highlights of our 2022 Best Conference Moments video.
But here's the crucial part: time is running out, and we don't want you to miss out on this incredible opportunity! Let's make sure you're well-prepared:
1. Visit Our Event Page: To stay up to date with the latest conference details, access the tentative agenda, submit your poster abstracts, secure your discounted resort accommodations, and get all the information you need to register and purchase your tickets, head over to our Event Page. Don't delay; do it today!
2. Apply for Family Travel Scholarships: The 2024 CDG Scientific & Family Conference is a unique chance for your family to connect and learn. We understand that attending may pose financial challenges, which is why CDG CARE is offering TWO travel scholarship opportunities, providing up to $1,000 in support. The application deadline is November 3, 2023. Learn more about the application process and guidelines HERE.
3. Support from Generous Sponsors: Our event wouldn't be possible without the support of our incredible sponsors. We need your help! If you, your organization, or your company share an interest in our cause, consider becoming a sponsor. Your sponsorship contributes to keeping registration costs affordable, providing therapeutic daycare for up to 50 children affected by CDG and their siblings, and offering travel scholarship opportunities for attendees. Discover our 2024 Sponsorship Opportunities here or contact us at info@cdgcare.org to find the perfect fit for your contribution.
We can't wait to reunite with our CDG Community, meet new faces, and extend a warm welcome to our professional community, and newly diagnosed and veteran families in sunny San Diego. Mark your calendars, secure your scholarships, and consider sponsoring this extraordinary event.
Together, we can make a difference!
Don't let time slip away. Join us at the 2024 CDG Scientific & Family Conference and be a part of a transformative experience. See you in March 2024!
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News from CDG CARE & the FCDGC | |
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CDG CARE welcomes new Medical Advisory Board member!
CDG CARE is thrilled to extend a warm welcome to Dr. Clement Chow, who has recently joined the CDG CARE Medical Advisory Board! Dr. Chow's impressive background and dedication to genetic research make him a valuable addition to our team.
Dr. Chow earned his Bachelor of Arts degree from Cornell University in 2003, completed his Ph.D. in Human Genetics at the University of Michigan in 2008, and is currently an Associate Professor within the Department of Human Genetics at the University of Utah.
Dr. Chow's research, as head of The Chow Lab, centers on understanding the role of genetic variation in disease outcomes. He employs quantitative and functional tools, working with various model organisms to study how genetic variation affects essential cellular traits relevant to human health. This work with model organisms will contribute to modeling and informing studies of genetic variation in the human population, ultimately striving to identify variations that can lead to more personalized therapies, particularly for rare diseases.
We look forward to collaborating with Dr. Chow and benefiting from his expertise as we continue to support and advocate for all families affected by CDG. Please join us in extending a warm welcome to Dr. Chow as he becomes an integral part of our CDG CARE Medical Advisory Board.
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New Resource for the NGLY1 Community is Now Available!
CDG CARE is pleased to announce that through our continued collaborative efforts, a new patient resource for NGLY1 families is now available. This new listing of NGLY1-CDDG in the Child Neurology Foundation’s (CNF) Disorder Directory can be accessed HERE.
The CNF Disorders Directory is a vital hub of knowledge and provides a valuable source of information that offers family stories and resources related to pediatric neurological conditions. We are proud to contribute to this repository and believe it will be a tremendous asset to the NGLY1 community and those seeking information on this rare disorder.
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The Frontiers in CDG Consortium (FCDGC) announces new clinic locations & collaborators!
Several new clinic locations and medical providers have recently joined the FCDGC global network. Below is a summary of each location and the CDG specialists leading them:
Mayo Clinic in Jacksonville, Florida
- Led by Dr. Karthik Muthusamy
- Specializes in Neurogenetics, including leukodystrophies, genetic epilepsies, neuromuscular disorders, neurometabolic disorders, and more.
- Completed medical school and various residencies at institutions in India and the Mayo Clinic in Rochester.
- Research interests include rare and undiagnosed genetic disorders and Neurofibromatosis.
Emory University Clinic in Atlanta, Georgia
- Led by Dr. Juanita Neira
- Specializes in clinical genetics for pediatric patients.
- Completed Pediatric Residency at Woodhull Medical Center/NYU and Clinical Genetics and Medical Biochemical Genetics training at Baylor College of Medicine/Texas Children's Hospital.
Rady's Children's Hospital in San Diego, California
- Led by Dr. Jennifer Friedman
- Expert in movement disorders with an interest in genetic and metabolic disorders affecting movement.
- Extensive training and experience in neurology and neurogenetics.
Mount Sinai Clinic in New York, New York
- Led by Dr. Jaya Ganesh
- Associate professor at the Icahn School of Medicine at Mount Sinai.
- Specializes in Inborn Errors of Metabolism, including Lysosomal storage diseases and mitochondrial diseases.
- Principal investigator of multiple studies focused on rare diseases.
University of Alberta in Edmonton (Canada)
- Led by Dr. Saadet Andrews
- Completed medical training and various fellowships in Türkiye, Vienna, Vancouver, and Amsterdam.
- Developed specialized clinics for inherited neurotransmitter diseases and epilepsy genetics.
Additionally, a new CDG specialist, Dr. Queenie Tan, has joined the team at the Mayo Clinic in Rochester, MN. She is a clinical geneticist with expertise in treating patients with inherited disorders or genetic abnormalities.
These new clinic locations and specialists offer a wide range of expertise in clinical genetics and aim to provide specialized care for patients with all types of CDGs. To learn more about which FCDGC clinic location might be best for you, and travel opportunities available to seek specialist care, please contact us at info@cdgcare.org
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FCDGC shares new patient & professional resources!
The FCDGC's vision is centered on conducting research to enhance the integrated clinical care for CDGs around the globe.
Over the past decade, a dedicated alliance of patient advocates, committed clinicians, and devoted scientists has collaboratively forged a virtual consortium. Their shared mission has been to elevate patient outcomes by fostering extensive cooperation. This enduring partnership has encompassed the exchange of expertise, personalized therapeutic approaches, organization of patient conferences, and support for physicians attending to individuals with CDG.
In line with this mission, the FCDGC team identify knowledge gaps within the CDG patient community and actively collaborates with healthcare professionals and patient advocates to develop tailored resource materials. One of the avenues through which we share this valuable information is by creating short educational videos available on the FCDGC YouTube Channel.
We invite our community to explore the wealth of professional and patient resources currently available and are delighted to announce that the latest video, designed to promote the accurate and timely diagnosis of CDGs, is now accessible in both English and Spanish:
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Congenital disorders of glycosylation (CDG) are a group of more than 160 rare genetic disorders that affect a complex process in the body called glycosylation. Since the introduction of whole-exome and whole-genome sequencing as a diagnostic tool, CDG diagnoses have increased. However, nearly all types of CDG do not have a cure.
In this study, researchers retraced the history of CDG by analyzing all patents associated with the disorders. First, the team used a database called Espacenet to extract a list of patents. Next, researchers divided the patents into three major groups—drugs and therapeutic approaches, drug delivery tools, and diagnostic tools.
Results include 25 patents for drugs and therapeutic approaches, 17 for diagnostic tools, and two for drug delivery tools. Authors note that although these patents demonstrate enormous scientific progress in CDG, diagnostic tools, drugs, and biomarkers are still urgently needed.
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Evaluating Mitochondrial Function and Autophagy in PMM2-Congenital Disorder of Glycosylation
FCDGC: Interplay of Impaired Cellular Bioenergetics
and Autophagy in PMM2-CDG
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PMM2-CDG is a type of congenital disorder of glycosylation caused by mutations in the PMM2 gene. Some types of CDG are associated with dysfunction of the mitochondria, which generate energy to power cells. However, not much is known about cellular bioenergetics (how cells transform energy) in PMM2-CDG.
In this study, researchers evaluated mitochondrial function and autophagy (the process of breaking down cellular contents) in PMM2-CDG. The team evaluated fibroblasts (connective tissue cells) with different genotypes from a natural history study of individuals with PMM2-CDG.
Results reveal secondary mitochondrial dysfunction in PMM2-CDG, as well as altered autophagy, which may act as a marker of disease severity. Authors note that manipulating these processes could offer therapeutic benefits when combined with existing treatments for PMM2-CDG.
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CAD deficiency is a rare congenital disorder of glycosylation characterized by epileptic encephalopathy (disease affecting the brain). Because symptoms are non-specific, there is no biomarker, and the CAD protein has over 1,000 known variants, CAD deficiency is difficult to diagnose.
In this study, researchers aimed to improve diagnosis of CAD deficiency. The team assessed the disease-causing ability of both previously reported and unreported CAD variants. Additionally, researchers studied the impact of disease-causing variants at the protein level.
Authors note that combining these functional and protein structural analysis methods can help refine clinical diagnostic workflow for CAD variants.
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Final patient gets enrolled for
GLM101-002 in Minnesota
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Glycomine, Inc. is happy to announce the completion of enrollment of Study GLM101-002 for adult PMM2-CDG patients. We’d like to thank the clinical study teams at San Joan de Deu Hospital in Barcelona, Spain, Central Research West Florida in Tampa, Florida and Mayo Clinic Rochester, Minnesota for all of their hard work and contributions to the study. We are also grateful to the patients and their families for their study participation and thank them for Pulling 2Gether for PMM2.
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World CDG Organization:
Education & Resources
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6th World Conference on CDG for Families and Professionals
The 6th World Conference on CDG (WCCDG) for families and professionals was held at NOVA School of Science and Technology, FCT NOVA, in Caparica, Portugal, between July 20 and 23 (2023). The main purpose of the 6th World Conference on CDG was to build and strengthen community-centric activities to promote and accelerate CDG research and drug development and identify and create potential solutions for the challenging demands of people living with CDG aiming to improve care, disease management, and well-being. The 6th World Conference on CDG was divided in three instructional tracks:
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The "World Think Metabolic, Think CDG Academy” featured pre-conference sessions delivered online, in video format, allowing attendees to access the latest developments on CDG at their own pace and convenience. The purpose was to provide knowledge to attendees for the in-person World Conference on CDG, as well as to involve them in advocacy activities and CDG daily care and management.
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The “First World CDG Advocacy, Policy, and Leadership Academy” offered in-person sessions. It represented an unprecedented and transformative initiative that gathered experts, practitioners, families, and advocates under a single banner to deliberate, collaborate, and innovate. This academy served as a pivotal platform where the collective expertise of professionals and the lived experiences of families converged, fostering an environment of knowledge exchange, empathy, and solution-oriented thinking. Workshops established the basis for the discussions held during the 6th World Conference on CDG.
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The “6th World Conference on CDG” featured a diverse range of sessions intended for the whole CDG community, encompassing short talks and pitches, interactive question-and-answer segments, live interviews with CDG experts and patients, and dynamic think tanks that encouraged collaborative brainstorming to address challenges within the CDG community.
The 6th World Conference on CDG was made possible through the joint efforts of the Portuguese Association for CDG and CDG & Allies in collaboration with worldwide CDG patient advocacy groups, advocates, families, researchers, donors, and supporters. We also want to extend our heartfelt appreciation to the facilitators for their exceptional contributions during the congress. The 6th World Conference on CDG marked a significant milestone in collaborative efforts to address the complex challenges posed by CDG.
For key insights and behind-the-scenes highlights related to the conference, be sure to follow us on our social media channels:
· World CDG Organization Facebook
· World CDG Organization LinkedIn
· World CDG Organization X
Participant testimonials:
“For me as a father of a CDG affected girl and representative of GlycoKids, it was a really amazing to exchange with families, professionals and members of other associations from all over the world in a very friendly environment “- Andreas Bozsa, father of Frida – Glycokids, Germany
“This is the first time we attend the World Conference on CDG and we are very grateful, both to the organizers, to the doctors and scientists. They were very generous in sharing not only knowledge but their time and love with the patients and families. It was an unforgettable experience that brings a lot of hope. I hope these conferences continue to be held, they are a great blessing.” - Ernesto Romo, father of Martim, Spain
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Registration for Family Well-Being Series
New announcement: Family Well-Being Series: Nurturing Mental Health!
Description:
Join our transformative online workshop series designed to bolster the mental health and well-being of our families. Over three engaging sessions in English on November 17th, 24th, and December 1st from 17:00 to 19:00 PM (Lisbon local time), we'll explore self-care, resilience, and support strategies. Reach out to us to discover more about this incredible opportunity for your family's growth and happiness.
Registration Deadline: October 31st.
*Fellowships available for those in need.
Don't miss out on this chance to prioritize your family's well-being. Register today!
Write us: wcdgo@worldcdg.org
More about who is leading this initiative:
Vanessa is a CDG sibling, who initiated a journey into coaching 5 years ago in parallel with her path in the CDG community-centric research. Coaching has become an integral part of her life, offering a plethora of tools and benefits that have enriched not only her understanding but also her ability to support individuals and families within the CDG community.
Incorporating coaching techniques into her life and work has allowed her to connect with others on a deeper level, empowering them to navigate the challenges that come with CDG. She is excited to share these insights and tools with you in our upcoming workshop series, as she believes they can be invaluable in enhancing the well-being of CDG families. Join us on this transformative journey, where my experience and passion converge to provide you with meaningful support.
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