Gaba-A Alliance

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Gaba-A Alliance

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Supporting Science and Families, Uniting GABA-A Disorders Worldwide

11/05/2026

📣 UPDATE 📣

" Families living with rare monogenic epilepsies face profound challenges. For many of these conditions, scientific understanding and treatment options remain limited. Each condition is individually rare, patient populations are small, and the information that could drive discovery is spread across many institutions, registries, and advocacy groups. Often the data needed to make progress exist, but are difficult to find and connect.

The rare epilepsy community has already built many resources: registries, advocacy networks, datasets, and platforms, most created around one specific condition or gene. Our aim is to help these efforts connect and to build resources that can be shared. Though individual diseases differ, the underlying needs for research progress are common: ways to convene stakeholders, agree on data standards, and make existing data easier to find and use.

Co-founder & CEO Miranda Cox of Gaba-A Alliance, along with 70 clinicians, scientists, patient advocates, and caregivers came together at the first inaugural D4CG CHIMES summit in 2025. One specific request from this community was a clear picture of what already exists and how it is connected. That picture is the Living Atlas.

The Living Atlas is an interactive map of the people, groups, and data that make up the rare epilepsy world—genes, conditions, advocacy and family organizations, registries, and the platforms that hold data—and how all these pieces relate to one another. The goal is a shared, clear picture of what exists, so families, researchers, and advocates can see who is working on what, where efforts connect, and where the gaps remain.

With the Atlas, you can:

➡️Explore by gene or by condition and watch the connected community take shape around it.

➡️See advocacy and family groups, and how they relate to and overlap with one another.

➡️Look at any entry three ways: a reference card with links to trusted sources, a visual network map, and an AI-assisted chat that answers questions from those same sources.

It’s designed as a living resource rather than a static report: searchable, structured, and continually updated and corrected as the community grows."

COMING SOON 👏👏👏

Data for the Common Good is working alongside the rare epilepsy community to connect existing efforts and build shared resources.

07/20/2026

**Post from Rebekkah Dahl - LinkedIN**

🎉 And we're live! 🎉

I'm excited to share that our new GABA-Portal is finally here! A web-based platform built to further insights into GABAA receptor-related disorders, the GABA-Portal contains expert-curated clinical and genetic data on 500 individuals, as well as experimental functional determination for 202 unique variants.
Clinicians, families, and researchers all need faster, more reliable ways to interpret variants. Here is what the GABA-Portal offers:

🧬 Semi-automated ACMG/AMP variant classification pipeline with expert-curated evidence to speed up variant review while allowing users to assess and customize the criteria and their specifications.

🔬 Functional data integration, incorporaring experimental evidence to help distinguish gain-of-function from loss-of-function variants for treatment-relevant classification.

🖥️ The GABA-Portal additionally hosts the novel functional prediction tool GENTLY, developed by Christian Bosselmann, MD, providing functional insights even in the absence of experimental results.

👨‍👩‍👧‍👦 Family- and gene-specific clinical insights, linking genotype to phenotype across a growing patient cohort to support more personalized counseling and care.

💜 Why this matters

Families gain a resources to empower them on their journey. Clinicians get structured, evidence-based support for variant interpretation. Researchers can spot genotype-phenotype patterns that inform both classification and treatment strategy. Together, this moves us closer to precision approaches for GABAAR-related epilepsies.

🔗 Explore the GABA-Portal:
https://lnkd.in/duMQR5zD

This has been a true team effort, and it wouldn't exist without:
📋 Sebastian Ortiz De la Rosa for leading the clinical data collection.
💻 Tobias Brünger for supervising the development of the portal.
🔬 Philip K. Ahring and team for experimental functional testing providing real evidence for our variant classification pipeline.
🧑‍🧑‍🧒 The support from the family organizations CURE GABA-A Variants and GABAA Receptor Alliance.

Thank you especially to my PhD supervisors Rikke Steensbjerre Møller and Dennis Lal for guiding me throughout this tremendous project.
Grateful to everyone who made this possible and supported the design, production and reviewing of the Portal. I appreciate all of you! 🙌

Katrine M Johannesen, Nazanin Azarinejad, Nathan Absalom, Vivian Liao, Serene El-Kamand, Susan Lin, Anthony Kan, Suyeon Kim, Eduardo Pérez

This link will take you to a page that’s not on LinkedIn

06/08/2026

🚨GABRA1 & PBA PREPRINT PUBLICATION🚨

Wonderful news from Dr. Kang and her associates at the Kang Laboratory, Vanderbilt University 👏👏👏

"We found that both total and cell surface α1 expression was reduced when the variant α1 protein was present; suggesting reduced functional receptor on the cell membrane and synapse. Patch clamp recordings identified α1 variants reduced GABA-evoked current amplitude. In silico prediction indicated reduced protein stability for GABRA1 variants indicated by negative ΔΔG values. PBA increased both total and surface expression of wildtype α1 and α1 variants; and improved expression of both wildtype and variant α1 alleles when these were co-expressed. Importantly, PBA also increased the GABA A R expression in the thalamus of the Gabra1 +/A322D mice. This study indicates that PBA is a promising treatment option for DEEs associated with GABRA1 mutations. Our previous work has demonstrated that PBA improves proteostasis by enhancing expression of the wildtype allele, repairing the mutant allele, and reducing endoplasmic reticulum stress. Therefore, it can mitigate seizures and improve neurobehavioral phenotypes at behavioral levels."

Disease variants in GABR genes encoding γ-Aminobutyric acid type A receptor (GABA A R) subunits are major causes of developmental and epileptic encephalopathies (DEEs). There is no effective treatment for these DEEs although the GABA A R is a major target for antiseizur...

02/28/2026

Individual rare diseases are rare, but altogether they are not: 1 in 10 Americans is living with a rare disease.

Meet the Faces of Rare at rarediseaseday.us and add your own to our celebration wall this .

www.gabaa.org
www.gabra1village.org

1 in 10 Americans—our friends, neighbors, coworkers, classmates, and loved ones—lives with a rare disease.

Follow us, the National Organization for Rare Disorders, NORD, to support them this . Learn more at rarediseaseday.us.

12/02/2025

🌟 This , Make a Difference with GABA-A Alliance! 🌟

Today is all about giving back, and we need your help to continue making a lasting impact on the lives of those affected by GABA-A receptor disorders. We know times are tough, and extra money to give is a privilege we don't take for granted!

Every donation, no matter the size, helps fund critical research, support services, and advocacy efforts for individuals and families in need.

www.gabaa.org/getinvolved

💙 Why Your Support Matters:
GABA-A receptor disorders are often overlooked, yet they can have profound effects on neurological health. With your generosity, GABA-A Alliance can drive progress towards better treatments, awareness, and ultimately, a brighter future for those living with these conditions.

🔬 How You Can Help:
1️⃣ Donate: Your contribution goes directly to advancing vital research and support programs.
2️⃣ Spread the Word: Share this post and help us raise awareness.
3️⃣ Get Involved: Join the GABA-A Alliance community and be a part of the movement!

Also, check out our friends at Cure Gaba A Variants. They are making tremendous strides in the GABAA Community, and are currently needing funding for a major mRNA project that will change the trajectory for treatment solutions that will benefit many GABAA related diseases! You can check out their mission and find additional details at www.curegabaa.org for more information!

Together, we can make a real difference. Thank you for your continued support! 💙

Every dollar raised goes directly to GABA-A research, fueling the path toward treatment solutions—100% of your donation makes an impact!

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Shirley, MA

Website

http://www.gabaa.org/

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