Vol. XXXI - April 2026 | Email Us | CDGCARE.org

In this Issue

• CDG Biorepository Launch & Research Access
• Team CDG at MDBR – Join the Movement
• Family Impact, Stories & Community Support
• Research Advances & Global Collaboration
• Community Events, Awareness & Ways to Engage

CDG CARE is proud to announce the launch of the first global CDG Biorepository - an important milestone that will expand access to critical patient biospecimens for researchers studying all types of CDG worldwide.

Developed in collaboration with COMBINEDBrain, a consortium supporting more than 120 rare neurodevelopmental disorders, this initiative establishes a governed, high-quality biobank where CDG biospecimens can be shared with qualified researchers across the globe. By creating this shared resource, the biorepository is designed to accelerate biomarker discovery, natural history studies, and the development of future therapies.

The biorepository will officially launch at the 2026 CDG Scientific & Family Conference in Orlando, where attending families will have the first opportunity to contribute samples and learn more about how participation supports research.

Donor spots are still available for conference participants!

Most importantly, this is just the beginning.

Through our partnership with COMBINEDBrain, CDG CARE will support biorepository collections at roadshow locations across the United States throughout 2026, creating multiple opportunities for families to participate when events take place near them.

This effort also extends beyond new collections. Through this collaboration, we will have the ability to work with existing academic institutions and global laboratories to establish Material Transfer Agreements (MTAs), allowing previously collected CDG biospecimens to be incorporated into the CDG Biorepository.

This approach helps ensure that valuable patient samples already contributed by families can be more broadly accessed and utilized to advance research across the field.

For rare diseases like CDG, access to well-characterized biospecimens remains one of the most powerful tools for driving progress. By building this shared resource together, our community is helping to create a foundation that will support research and discovery for years to come.

If you are interested in participating at the conference or at a future roadshow location, or would like to learn more, please contact us at info@cdgcare.org.

CDG CARE is proud to join the 2026 Million Dollar Bike Ride (MDBR) for the first time - and we need our entire community to show up.

On June 13, 2026, rare disease communities across the country will unite in Philadelphia with one powerful goal:

👉 Raise $1 MILLION for rare disease research

This is more than a ride.

This is the collaborative fundraiser that can accelerate CDG research forward.

For families living with CDG, research is urgent. MDBR gives us the power to join forces, amplify our impact, and drive progress - together.

We’re honored to have Dr. Andrew Edmondson as our Professional Lead Ambassador - now we need YOU.

🚴‍♂️ Join Team CDG:

🔹 Ride in Philadelphia (June 13)

🔹 Volunteer onsite

🔹 Go virtual - fundraise from anywhere and rally your community

👉 [Join or donate by clicking here]

This is our chance to mobilize the CDG community like never before.

Every dollar fuels research. Every voice builds momentum.

Let’s come together. Let’s make it count.

Go Team CDG! 💚

Emmett’s Legacy Fund

Expanding Impact for CDG Families Worldwide

CDG CARE, in partnership with the incredible Nguyen family, is proud to share the continued impact of Emmett’s Legacy Fund, which has now awarded more than $41,000 in its 2026 funding cycle.

This year, 21 families across the United States, Canada, Mexico, Brazil, and Portugal will receive essential therapeutic and medical equipment; resources that directly support daily care, mobility, and quality of life for children living with CDG.

Now in its sixth year, Emmett’s Legacy Fund remains a powerful example of how one child’s story continues to create meaningful change for families around the world. From specialized mobility equipment to feeding and supportive care tools, each award is thoughtfully directed to meet real, immediate needs. For families navigating the complexities of CDG, this support goes far beyond equipment - it brings greater independence, comfort, and hope.

We look forward to sharing more in the months ahead. Be sure to follow CDG CARE on Facebook this summer as we highlight the families and stories behind this year’s awards through our annual spotlight series.

To learn more about Emmett’s life and legacy, visit www.lifebyemmett.com, and for more information about PIGA-CDG, please visit www.PIGA-CDG.org.

Patient Family Spotlight: Belle's Story

By Hailee Winegar

After three boys, I was excited to finally get my final baby- a girl! I was already dreaming of all the experiences we’d share together. Seeing her run around with a baby doll in hand, playing dress up, dancing on stage in a cute tutu, dating, getting married, having kids and having a built in best friend. But something didn’t feel right during my pregnancy. For some reason I had anxiety and didn’t feel these experiences would come to pass. Of course I brushed off my worries and chalked it up to pregnancy stress. 

In September of 2019 I gave birth to a healthy, beautiful baby girl with the most black hair I’d ever seen on a baby! We named her Belle! Upon first glance I felt like something was off- was it her cute little webbed toes? Her ears? The way she held her hands or wouldn’t really look in my eyes? Maybe it was the way she slept with her head completely cocked back. I couldn’t place it but just had a feeling. Then she started throwing up. After ten days at home, my husband, Andrew and I could just feel the life being sucked out of her. We rushed her to the ER and spent an agonizing month admitted in the hospital wondering why at 4 weeks old she was still only 5 lbs- not even back up to her birth weight. Then the diagnosis came. Congenital Disorder of Glycosylation (SLC35A2-CDG). My husband and I truly did not understand the doctors explanation of this and I remember asking “will this impact her ability to have children?”. He lovingly smiled at me and said in his charming Italian accent, “she will have a BEAUTIFUL life! A very beautiful life!” Ok, we thought. She may need some supplements or therapies but this diagnosis isn’t so bad! Then came January 2020…

Belle got very sick with a respiratory infection. After only being home for a couple weeks we were admitted back into the hospital. This time it was bad, but we experienced many miracles. First, my cousin was the nurse manager of the floor we were on. It was such a blessing to know that she was there with my baby when I needed to be home with my young boys. But one day she called me and in her calm voice and said “You need to get here. Belle is being transferred to the ICU for emergency intubation. Little did I know that this would cause a string of life threatening events- she suffered a cardiac arrest and we almost lost her. The pain and anguish during this time was unbearable. Many prayers and pleas were said to God as the doctors prepared us for the worst. After many days of thinking we would lose our baby girl, she turned a corner. The doctors couldn’t believe the miracle! Belle is such a strong fighter and in that moment we knew she needed and wanted to be here. We were so blessed to have a CDG specialist at our hospital. He told us about some infusions that they had seen great progress with. We started IVIG and FFP infusions and after 8 long months in the hospital, Belle finally came home. For the most part, she's been home and healthy ever since.

Today Belle is a healthy, happy, and THRIVING six year old! She is the biggest sunshine girl- always giggling, hardly ever cries and just has the sweetest spirit. She is in kindergarten and loves her teachers and friends. She works hard in PT, OT, Vision and Speech therapies. She loves music, light up toys, nature, and her family, especially her big brothers! We are so blessed to have this angel in our family! 

Next Week: The Global CDG Community

Comes Together in Orlando

In just one week, the global CDG community will come together in Orlando for the 2026 CDG Scientific & Family Conference - and this moment would not be possible without the incredible support of our sponsors. We are deeply grateful for your partnership and commitment to this community.

This year’s program will feature a dynamic range of topics spanning the full CDG ecosystem, including disease mechanisms and neurodevelopment, translational therapeutics and drug repurposing, gene therapy and clinical trial readiness, biomarkers and diagnostics, and the growing role of artificial intelligence and precision medicine in rare disease.

We will welcome 320+ attendees from 11 countries, bringing together families, patients, clinicians, researchers, and industry partners in one shared space - united by a common goal: advancing progress in CDG.

As our largest conference to date, the 2026 program reflects both the scientific depth and the strength of our community. The conference will feature 28 scientific poster presentations, designed to be engaging and accessible for both professionals and families, alongside meaningful collaboration between global experts and patient advocates.

A full children’s program and family-centered support will ensure that every member of our community is welcomed and included.

A major milestone will also take place next week with the official launch of the CDG Biorepository, in partnership with COMBINEDBrain... an important step forward in accelerating research, enabling new discoveries, and advancing therapeutic development across all CDG types.

This conference embodies what we believe at CDG CARE: Uniting science, support, and solutions for CDG, together.

To our sponsors, thank you for believing in this mission and in this community. We look forward to welcoming and celebrating you in Orlando.

Since its launch in January, the CDG Clinical & Research Network (CDG CRN) has gained strong global momentum. In just a few months, 85 professionals across 31 countries have joined - bringing together clinicians, researchers, and industry partners dedicated to advancing care and discovery for CDG.

The CDG CRN was built on a simple but powerful belief: with more than 200 CDG types and rapidly expanding diagnostics, coordinated expertise has never been more essential.

The CDG CRN was created to:

• Strengthen clinical and research collaboration
• Increase visibility of CDG-experienced experts
• Enable multi-center studies and therapeutic development
• Build a sustainable pipeline of future CDG clinicians and investigators

As part of this effort, CDG CARE is launching the CDG Collaborative Research Priority Initiative, a community-driven effort to define a shared research agenda for CDG. This initiative will begin by elevating the patient and family voice, launching at the 2026 CDG Scientific & Family Conference.

If you are a clinician, researcher, laboratory professional, or industry partner working in or around CDG, now is the time to join. Every new member strengthens our collective ability to advance research and improve outcomes for families worldwide.

Our inaugural hybrid meeting will take place on April 23rd in Orlando - and there is still time to be part of this important launch!

[Click here to learn more and join the network]

Hormone-related problems affect more than half of all people living with CDG and up to 85% in some types. Because so many hormones depend on glycosylation to function properly, CDG can impact growth, thyroid function, blood sugar regulation, puberty, bone health, and stress response; often in ways that are subtle and easy to overlook in the context of other CDG symptoms. A new review published in the Journal of Clinical Research of Pediatric Endocrinology, summarized by CDG CARE's Director of Research Dr. Kristen Skvorak, covers key endocrine findings by CDG type along with monitoring and treatment recommendations.

[Click here to read the layperson summary]

[Click here to read the full article - Endocrine Implications of Congenital Disorders of Glycosylation (CDGs)]

A small tropical fish is helping scientists unlock the mysteries of CDG. Zebrafish share up to 92% genetic similarity with humans, making them a remarkably powerful research tool. These models are being used to study CDG, test potential treatments, and advance our understanding of how these disorders develop. From gene editing to drug screening, zebrafish are proving to be a fast, effective, and human-relevant way to move CDG research forward. 

[Click here to read the layperson summary]

[Click here to read the full article - Zebrafish models for congenital disorders of glycosylation (CDG): a systematic review]

At the 2025 International Genetically Engineered Machine (iGEM) Competition, the NYU Abu Dhabi team achieved global recognition, earning a Gold Medal and the Best Integrated Human Practices Award among more than 400 teams worldwide.

For the CDG community, however, this story goes far beyond awards.

It represents a powerful example of what happens when science, community, and global collaboration converge early, and intentionally.

Building the Bridge: From Community to Global Innovation

A defining strength of the NYUAD iGEM initiative was its deep engagement with the CDG community, facilitated through CDG CARE. This collaboration included direct contributions from Dr. Iván Martínez-Duncker, Scientific Advisor at CDG CARE and Dr. Andrew Edmondson of the Children’s Hospital of Philadelphia and member of the CDG CARE Medical Advisory Board, who brought clinical, research, and patient-centered perspectives into the development of the project.

But this engagement was not limited to a single interaction - it expanded into a broader educational and collaborative effort.

A Truly Global Effort: The NYUAD iGEM Physician Conference

As part of this initiative, the NYUAD iGEM 2025 Physician Conference brought together:

• 71 registered participants
• 19 institutions
• Representation from more than 25 countries

The conference featured expert talks from Dr. Duncker and Dr. Edmondson, helping bridge foundational science with clinical and translational insights in CDG.

Importantly, the virtual format ensured accessibility across continents, reinforcing a key principle in rare disease work: Geography should never limit access to knowledge or collaboration.

From Knowledge to Innovation: The iGEM Project

Building on this foundation, the NYUAD team developed their award-winning project focused on PMM2-CDG, proposing Revitalyze - a conceptual probiotic-based therapeutic strategy.

While still in early stages, the project reflects a shift toward:

• Accessible, non-invasive therapies
• Integration into daily life
• Design informed by real patient and clinical insight

This is precisely the kind of translational thinking that CDG CARE seeks to accelerate.

This initiative reflects the broader vision of CDG CARE and the emerging CDG Clinical & Research Network (CDG-CRN):

• Connecting global expertise without borders
• Elevating patient-centered research
• Engaging new generations of scientists and clinicians
• Accelerating pathways to diagnosis, understanding, and therapy

It also reinforces a critical truth: Progress in rare diseases is not driven by scale - it is driven by connection.

Looking Forward

The success of the NYUAD iGEM team is not just a milestone, it is a signal.

It shows that when we:

• Engage early
• Collaborate globally
• Center the patient voice
• And integrate disciplines

We create a pathway where innovation becomes not only possible, but inevitable.



For the CDG community, this is exactly the future we are building - together.

PGM1-CDG, a genetic glycosylation disorder, often causes heart muscle disease that doesn’t fully improve with galactose treatment. Using heart cells made from patient stem cells, researchers found that loss of PGM1 weakens the Z‑disk (a key structural part of muscle cells) by disrupting PGM1’s interaction with the Z‑disk protein LDB3. This structural defect goes hand‑in‑hand with major mitochondrial loss and failure, causing low cellular energy and poor, slow heart cell contractions. Computer modeling and lab tests confirmed the PGM1–LDB3 interaction and the mitochondrial dysfunction. The work suggests PGM1 affects heart function through a glycosylation‑independent pathway linking sarcomere structure to energy production and points to possible drug repurposing strategies to treat PGM1‑related cardiomyopathy.

[Read full article here]

Albumin as a Glycoprotein Biomarker in CDG

Congenital disorders of glycosylation (CDG) are rare inherited disorders resulting from defects in cellular glycosylation machinery. Albumin has recently been shown to be N-glycosylated at two non-canonical glycosylation sites. We applied multiplexed mass spectrometry-based glycoproteomics to identify site-specific N-glycosylation alterations in albumin from patients with PMM2-CDG, MPI-CDG, SRD5A3-CDG, MAN1B1-CDG and PGM1-CDG. Our findings demonstrate that the glycosylation of albumin is indeed affected in CDG and indicate a potential role for albumin-derived glycopeptides as diagnostic biomarkers.

[Read full article here]

One of the most powerful things CDG CARE offers has nothing to do with research papers or clinical guidelines — it's simply a room full of people who understand.

The CDG Community Connection returns on May 5th at 11AM ET and 7PM ET, and all CDG families around the world are warmly invited to join. Two convenient times mean no matter where you are or what your schedule looks like, there is a seat for you.

This is our beloved no-agenda, open format call — no presentations, no structured topics, just honest conversation. Come with questions about therapies, equipment, insurance, or seizure management. Come to share a win your family worked hard for. Come to vent. Come to listen. Or simply come to see the faces of people who carry the same weight you do every single day and know — without explanation — exactly what that means.

Live translated captions are available, making this a truly global space for our worldwide CDG community. 💚

[Click here to register for 11AM ET]

[Click here to register for 7PM ET]

The international CDG community will gather once again this spring for the CDG at the CMHI – 2nd Patient Meeting & Scientific Conference, taking place May 29–30, 2026 at the Children’s Memorial Health Institute in Warsaw, Poland, with virtual participation available worldwide.

This two-day program is thoughtfully designed to bring together clinicians, researchers, patients, and families in a collaborative environment that reflects the full CDG journey - from scientific discovery to daily care and lived experience.

Day 1 (Expert Day) will feature presentations and panel discussions led by internationally recognized leaders in CDG, focusing on:

• Advances in diagnostics and clinical care
• Current directions in CDG research
• Opportunities for discussion through live Q&A

Families are welcome to attend, and simultaneous English interpretation will be available for both in-person and virtual participants.

Day 2 (Patient & Family Day) shifts the focus to practical, family-centered support, offering:

• Educational talks on care and rehabilitation
• Interactive workshops
• Opportunities to connect, share experiences, and build community

The program will be delivered in Polish, reflecting its strong local engagement while remaining part of the broader global CDG effort.

The conference features an outstanding lineup of international experts, including leaders from across Europe and the United States, highlighting the continued strength of global collaboration in advancing CDG research and care.

Whether you are a clinician, researcher, or family member, this meeting offers a meaningful opportunity to learn, connect, and contribute to the future of CDG.

👉 Click here to learn more and register today.

World CDG Awareness Day

is Almost Here - May 16th!

Mark your calendars... World CDG Awareness Day is coming up fast, and the excitement is already building!

Every year on May 16th, families, clinicians, researchers, advocates, and supporters around the world come together to shine a light on CDG — spreading knowledge, sharing stories, and reminding the world that our rare disease community is strong, connected, and determined to move science forward.

This year's campaign theme is "It's a CDG Thing" — and we're inviting our entire global community to share the moments, challenges, victories, and experiences that only people in this world truly understand. From clinicians and researchers working to crack the science, to families and caregivers living it every single day — there are moments that only we get. Those moments? It's a CDG thing.

We're also thrilled to share that official state proclamations recognizing May 16th as CDG Awareness Day have already been secured in Georgia, New Mexico, New Jersey, and Oklahoma — with more states on the way!

A heartfelt thank you to our incredible CDG CARE State Advocate Volunteers, Lindsey Stievafter-Minner, Sara McFarland, Lilah Labovitz, and Katie Smith, for helping us Paint the USA GREEN.

Here's how you can get involved:

• Share your #ItsaCDGThing moment with a photo or video
• Wear green and go green on May 16th
• Like, share, and engage with CDG CARE posts to amplify awareness
• Start your own awareness fundraiser or support the campaign [here]

And one of the easiest ways to show your support? Wear it proudly. Our official CDG CARE Awareness swag is available now in adult and youth sizes with worldwide shipping, and every purchase directly supports CDG CARE programs, advocacy, and research. Shop [here].

Together, we continue to empower, educate, and elevate the CDG community — today and every day.



[Click here to find out more ways to participate]

Because if you know… it's a CDG thing. 💚