Gaba-A Alliance

Gaba-A Alliance Supporting Science and Families, Uniting GABA-A Disorders Worldwide

**Post from Rebekkah Dahl - LinkedIN**🎉 And we're live! 🎉I'm excited to share that our new GABA-Portal is finally here! ...
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

🚨GABRA1 & PBA PREPRINT PUBLICATION🚨 Wonderful news from Dr. Kang and her associates at the Kang Laboratory, Vanderbilt U...
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...

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

🌟 This , Make a Difference with GABA-A Alliance! 🌟Today is all about giving back, and we need your help to continue mak...
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

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