Chopra-Amiel-Gordon Syndrome CAGS Foundation, Inc.

10/02/2026

When clinicians understand the underlying condition, they can shift from reactive care to proactive management. They can establish appropriate surveillance, coordinate specialists around a shared diagnosis, and potentially avoid unnecessary tests, procedures, emergency visits, and hospital stays.

With the proper information, clinicians can refine their treatment approach and bring in the right resources.

10/02/2026

09/26/2026

💜🦓New publication alert: a new research abstract directly related to a 2025 study further characterizing ANKRD17-related neurodevelopmental syndrome (Chopra-Amiel-Gordon syndrome). It reports emerging genotype-phenotype correlations (i.e. how specific types of ANKRD17 variants may relate to symptom severity), and touches on ANKRD17's proposed role in neuronal development via the Hippo/YAP pathway, plus vascular and immune regulation.

It's a conference abstract rather than a full paper, so details are still preliminary, but it's one of the more substantive updates on this rare condition. Here's the source if you want to see it:

09/24/2026

We are seeking funders, sponsors, philanthropists, and community partners to help sustain the Chopra-Amiel-Gordon Syndrome Foundation and support important work for individuals and families affected by CAGS.

Our foundation works alongside a research team in Boston, an ongoing natural history study, and the CAGS Clinic. These efforts are helping improve understanding of CAGS, strengthen patient care, and advance research for better treatments and outcomes.

Funding will help us sustain the foundation, support the CAGS Clinic and research team, advance the natural history study, and provide continued resources and support for families. We are also working to establish an account with the Boston CAGS Clinic so donations can be made directly online.

We welcome support from individuals, businesses, charitable organizations, and philanthropic partners who believe in helping the CAGS community.

To learn more about becoming a funder or partner, please contact us at [email protected].

09/18/2026

Tomorrow’s the day! Going the distance for CAGS. Https://curecags.org

09/09/2026

What if one ultra-rare diagnosis could help unlock answers for many more?

That is the hope of CAGS research.

Chopra-Amiel-Gordon Syndrome (CAGS) is caused by changes in the ANKRD17 gene. Two physicians who helped discover and describe CAGS now serve on our Scientific & Medical Advisory Committee, including Dr. Maya Chopra of Boston Children’s Hospital, a global leader in pediatric medical and neurological research.

Through the CAGS Foundation, our growing global community, and the CAGS Clinic at Boston Children’s, families connect directly with the clinicians and scientists who have been studying CAGS from the beginning.

This collaboration is helping build a stronger foundation for discovery and the potential impact extends far beyond CAGS.

Research on ANKRD17 may deepen understanding of genetic epilepsies, neurodevelopmental disorders, neurological syndromes, and treatments for rare genetic diseases. Discoveries in one rare disorder can generate knowledge and tools that benefit many others.

We have the community.
We have the expertise.
We have the team.

Now we need your support to keep the science moving.

Visit https://curecags.org to donate today. Your gift can accelerate research, support families, and advance the search for better treatments.

Please give now and help turn the promise of CAGS research into progress.

Cure CAGS is dedicated to finding treatments and a cure for ANKRD17 Chopra-Amiel-Gordon Syndrome. Join our global network to support research and connect with others affected by this rare condition.

08/29/2026

What is Chopra-Amiel-Gordon Syndrome (CAGS)?

CAGS is a rare genetic syndrome. Individuals with CAGS have a variant (gene change) which impacts the function of one copy of the ANKRD17 gene.

CAGS was first described in 2021 by doctors Maya Chopra and Jeanne Amiel, and Chris Gordon.

The most common symptoms are neurodevelopmental differences, including developmental delay, particularly affecting speech, variable intellectual disability, and learning and behavior challenges.

Other features include epilepsy, frequent infections, minor eye differences, growth and feeding concerns, and kidney abnormalities.

Learn more:

CAGS is a rare genetic syndrome. Individuals with CAGS have a variant (gene change) which impacts the function of one copy of the ANKRD17 gene.

08/25/2026

🏃‍♂️ Going the Distance for CAGS! 💙

The marathon is now less than one month away! Every mile is for the CAGS community and every donation helps support the CAGS Foundation and advance CAGS research.

Now’s the time to help us go the distance. 💙🧬

Donate here:
https://www.zeffy.com/en-US/donation-form/run-for-rare-going-the-distance-for-cags

08/22/2026

📣 Recently diagnosed with ANKRD17-related Chopra-Amiel-Gordon Syndrome (CAGS)?

You and your family can help advance understanding of CAGS by joining the natural history research study at Boston Children’s Hospital. The study welcomes individuals with known or suspected disease-causing ANKRD17 variants and offers both remote and in-person participation.

Your involvement can help researchers learn more about CAGS and improve care and future treatment options for the entire community.

Learn more and find out how to participate:
👉 https://curecags.org/research-cags

08/18/2026

RARE: A Rare Disease Revolution is now available to watch. 🎬💙

While the film does not feature CAGS/ANKRD17, it offers a powerful look inside the rare disease world through the stories of six families navigating diagnosis, searching for answers, and fighting to advance science for their children.

We are also incredibly grateful to have our CAGS scientists and research team at Boston Children’s Hospital working to better understand CAGS and move research forward for our families.

The families featured in the film are helping drive science forward while raising awareness that rare disease is not so rare—and definitely not too rare to care

🎬 Watch it here:

Amazon Prime: https://lnkd.in/gCpCWCCG

Google: https://lnkd.in/g7UGPVUf

YouTube: https://lnkd.in/gRynsfAs

Apple TV/iTunes: https://lnkd.in/geqC-FH7

This is worth watching 💙

Watch trailer here: https://www.youtube.com/watch?v=XfyDlH5XnE

From a soldier to a musician, from an immigrant family to a mother ...