Vol. XXX - January 2026 | Email Us | CDGCARE.org

In this Issue

A Global Call for CDG Professionals - Join the CDG CRN
Raising CDG Awareness & Education in Egypt and Beyond
2026 Conference Update: Call for Posters, T-shirt Design Contest and Last Call for Registrations
CDG Genetics & Family Planning and Gearing up for Rare Disease Day 2026

Join the Global CDG Clinical &

Research Network: Advancing

Collaboration, Care, and Discovery

CDG CARE is excited to announce the launch of the CDG Clinical & Research Network (CDG CRN), a global initiative designed to strengthen collaboration among clinicians, researchers, and industry partners working in the field of Congenital Disorders of Glycosylation (CDG).

The CDG CRN was established to support scientific advancement, facilitate clinical collaboration, and improve professional visibility and connectivity across the international CDG landscape. The network is intended as a professional collaboration platform, complementing existing clinical care, research programs, and therapeutic development efforts.

Purpose of the CDG CRN

The CDG CRN serves as a centralized professional network intended to:

Connect clinicians with experience in diagnosing and managing CDG
Facilitate collaboration among researchers studying CDG pathophysiology, diagnostics, and therapeutics
Support industry partners seeking to engage with CDG expertise and research infrastructure
Promote knowledge sharing and cross-disciplinary collaboration

Advancing Clinical Care and Research

With more than 200 identified CDG types and continued diagnostic expansion, the need for coordinated expertise and collaboration is increasingly critical. The CDG CRN supports:

Improved visibility of CDG experienced clinicians and researchers
Opportunities for multi-center collaboration and study feasibility
Stronger alignment between clinical practice, research priorities, and therapeutic development
Education that builds a sustainable pipeline of future CDG clinicians and researchers, driving innovation and strengthening the field

Become a Member

Clinicians, researchers, and industry professionals working in CDG or related fields are invited to join the CDG CRN and contribute to a growing, collaborative professional community.

[Click here to learn more and become a member]

Now Live: GlycoCAST Episode 11

In this powerful episode, we’re honored to feature Dr. Sahar Sabry, a pediatric metabolic geneticist whose work helped establish CDG diagnosis and awareness in Egypt. From building diagnostic pathways to supporting families in resource-limited settings, this conversation highlights why global collaboration and education are essential to advancing CDG care worldwide.

At CDG CARE, we’re proud to support GlycoCAST as part of our mission to connect families, clinicians, and researchers across borders... ensuring every CDG voice is heard.

[Click here to listen now]

Now Accepting Poster Session Abstracts

CDG CARE is now accepting abstract submissions for the 2026 CDG Scientific & Family Conference Poster Session, taking place Friday, April 24, 2026, following the day’s programming.

The Poster Session provides an opportunity for families, advocates, students, clinicians, researchers, and professionals to share innovative work related to CDG and the broader rare disease space. We welcome abstracts that highlight:

Community experiences and insights
Advances in CDG research, clinical care, or treatment
Translational, educational, or advocacy-focused work

Multiple submissions are welcome, and encore presentations from recent conferences are permitted.

We look forward to highlighting ideas, experiences, and research contributing to the advancement of CDG care and discovery.

Submission deadline: March 27, 2026

[Click here to submit a poster abstract]

For questions about the Poster Session, please contact skvorak@cdgcare.org .

Design our CDG Conference T-Shirt

Calling CDG Community Artists!

We’re inviting individuals living with CDG and their siblings (ages 18 & under) to help design the official t-shirt for the 2026 CDG Scientific & Family Conference taking place this April in Orlando, Florida.

This shirt will be gifted to all attendees and will represent our theme: "Pathways to Progress: Uniting Science, Support & Solutions"

Submit your artwork and rally friends and family during our community voting period. The winning design will be announced on Rare Disease Day, February 28!

Your art could become the shirt worn by families, clinicians, and researchers from around the world.

[Click here to learn more]

The 2026 CDG Scientific & Family

Conference is Almost Here!

Get ready to join us in Orlando, Florida, from April 24–26, 2026, at the Hilton Orlando Lake Buena Vista - Disney Springs Area, for what promises to be our biggest and most inspiring conference yet!

[Click here to explore all the details and register now!]

Why Attend?

Whether you’re a CDG family, clinician, researcher, or industry partner, this 3-day event is your opportunity to connect, collaborate, and help shape the future of CDG science and care.

What to Expect:

✅ World-Class Scientific, Clinical Care Management and Research & Therapy Sessions featuring cutting-edge presentations from leading experts

✅ Professional & Family Roundtables to connect, learn, and thrive together

✅ Poster Exhibits showcasing research and community engagement

✅ Multiple Networking Opportunities for professionals and families

✅ Kids & Teen Activities to keep young attendees happy and engaged

✅ Travel Assistance Options for family support

✅ Community Celebration Night! A chance to let loose, make memories, and celebrate our shared journey

Inspiring Speakers & Cutting-Edge Topics

We’re building a powerhouse agenda featuring researchers, clinicians, and advocates who are driving change in CDG diagnosis, management, and treatment. Be inspired by the latest breakthroughs and the people behind them!

Book Your Room Early

Registered attendees will have first priority to book rooms at our discounted hotel block inside the Disney Springs Resort Area - a perfect setting for families and professionals alike to enjoy learning and leisure.

Support the CDG Conference

By becoming a sponsor or donor, you help make the 2026 CDG Scientific & Family Conference possible. Your support keeps this event accessible to families and drives collaboration across the global CDG community. Sponsorships start at $3,000, but gifts at any amount help families access life-changing information, connection, and hope. To learn more about sponsorship opportunities, please contact info@cdgcare.org.

Help Us Spread the Word

Share this announcement with your care team, research colleagues, or fellow CDG families. Together, we can make the 2026 CDG Scientific and Family Conference our most meaningful gathering yet, because progress happens together.

Hosted by CDG CARE | Powered by Science, United by Community

Understanding Brain Network

Imbalance in ALG13-CDG

ALG13-CDG is a rare genetic condition that mainly affects the brain, but until now it was unclear exactly how it disrupts brain development. In this study, researchers used patient-derived “mini-brains” grown in the lab to better understand what goes wrong.

They found that ALG13-CDG leads to reduced sugar modifications on key brain proteins, which are essential for normal brain cell development and communication. As a result, brain cells exhibit impaired development and maturation resulting in neuronal network dysfunction shifting toward over-excitability. These changes help explain why seizures are common in ALG13-CDG. Overall, the findings show that ALG13-CDG causes instability in brain networks and point toward new, more targeted treatment strategies in the future.

[Read full article here]

A Promising Step Forward:

Govorestat in PMM2-CDG

Summarized by Dr. Kristen Skvorak, CDG CARE Director of Research

Researchers recently published a study describing the treatment of a single child with PMM2-CDG using govorestat (AT-007), a medication designed to help correct harmful sugar imbalances in the body. This treatment was provided through a special FDA expanded-access program and followed the child over a three-year period.

Govorestat works by blocking an enzyme that creates excess sorbitol, a sugar known to contribute to cellular stress in PMM2-CDG. The primary goal of this study was safety. Over the course of treatment, govorestat was well tolerated, with no drug-related side effects reported.

While govorestat is not currently an approved treatment for PMM2-CDG, these early observations help lay important groundwork for future research. The findings support the need for larger, carefully designed studies to better understand whether govorestat may be safe and beneficial for more individuals living with PMM2-CDG.

[Click here to read the full layperson summary]

Upcoming CDG Community Connection:

Genetics & Family Planning

Our monthly CDG Community Connections are shaped directly by the voices of our community and this upcoming session is one many families have been asking for.

We’re excited to invite our CDG families to our next CDG Community Connection: Genetics & Family Planning, featuring Juliet Young, a board-certified genetic counselor with hands-on experience supporting individuals and families affected by CDG.

During her training at the Icahn School of Medicine at Mount Sinai, Juliet worked alongside CDG specialist Dr. Eva Morava, gaining both strong clinical insight and a deep understanding of the unique questions and challenges faced by the CDG community.

This conversation will focus on making genetics more understandable and accessible. Topics will include:

Understanding CDG genetics in plain language
Inheritance patterns and family planning considerations
Making sense of genetic testing and results
Looking ahead across the lifespan, from childhood through adulthood

Whether you are newly diagnosed, considering future family decisions, or simply looking for clearer information, this session is designed to be a supportive, judgment-free space to learn, ask questions, and connect with others who understand the CDG journey.

February 3, 2026 @ 7:00 PM ET

[Register by clicking here]

Countdown to Rare Disease Day 2026!

The countdown has begun!

Rare Disease Day 2026 is February 28th, and CDG CARE is preparing for a powerful month of awareness, advocacy, and community connection.

Rare Disease Day is a global movement to spotlight individuals and families living with rare conditions - including Congenital Disorders of Glycosylation (CDG).

Throughout February, CDG CARE will share stories, fact slides, and social media campaigns to elevate CDG visibility worldwide.

FUN FACT: The zebra is the official symbol of rare diseases, representing the

uniqueness of every rare disease journey - and every CDG family.

Join the Movement

Help amplify the CDG and rare disease voice by:

Sharing CDG CARE’s Rare Disease Day posts
Updating your social media cover photo with RDD graphics
Encouraging friends, schools, and workplaces to participate

Small actions create big impact - and awareness opens doors to research, care,

and community.

Rare Disease Day 2026 Scientific Conference – Mount Sinai

On Friday, February 27th, Icahn School of Medicine at Mount Sinai will host an in-person Rare Disease Day Scientific Conference in New York City, bringing together leading experts in rare disease research, clinical trials, and rare disease communities.

Importantly for our CDG community, the program includes CDG-focused research sessions, featuring presentations by Dr. Eva Morava and Dr. Tamas Kozicz on advances in CDG multi-OMICs science and care.

This is an exciting opportunity to see CDG research represented on a major rare

disease stage, strengthen collaboration across the broader rare disease landscape, and amplify the CDG voice within the global rare disease movement.

We especially encourage families and community members in the New York

region to consider registering and attending in person - your presence helps

ensure that patient and family voices remain at the heart of rare disease research

and progress.

[Click here to view the complete program]