Gaba-A Alliance

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!

08/27/2025

📢 GABA-A Alliance NEWS ‼️

📍Our Stem cell library is now published here: https://docs.google.com/spreadsheets/d/1PztiWJieuLtYjZK2C2QEmy798Nm7pL7QpaR_ekqyHnE/edit?gid=2126868413 =2126868413

📍You can search by gene and see the different GABAAR samples available to researchers. Through fundraising which includes Cure GABRB2 and GABA-A Alliance, we have added 4 patient-derived stem cell lines and expanded to 10 vials of each. These are available now. We have matching parent controls which were previously developed. In addition, we have isogenic controls which are basically the patient cells where the GABA-A gene is corrected. These are also fully paid but are still undergoing gene-editing.

📍We now have samples covering GABRA1, GABRB2, and GABRG2 genes, which represent variants specifically requested by researchers prior to creation. We felt confident that these cells would provide the best likelihood of usage and cover enough of a patient population to provide more value to research. To our surprise, we have had greater than anticipated demand for these cells already, including advance requests for the isogenic lines which we hope will be ready later this year.

📍Through many generous anonymous, small, and large donations, we have collectively raised over $100,000 towards our research efforts. Our stem cell project has cost us about $80,000 over the years, and we plan to continue our work in this area. We are blessed to have people who have contributed to our efforts and are very thankful for their generosity and trust.

Our mission is to help ALL children affected by GABAAR related diseases, and we need your help. We are stronger together! 💪

‼️If you'd like to add your child's cells to the official GABA-A Alliance Biobank, send us a DM or email us at [email protected]

‼️Interested in our projects & want to become involved? Visit https://www.gabaa.org/getinvolved

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

08/20/2025

THE CRID

>>What is CRID?
CRID, or Clinical Research Identifier, is a unique identifier for patients participating in clinical research studies. This identifier is generated by the patient or their parent and serves as a secure and consistent way to identify a patient's information across multiple research studies.

>>Is CRID Secure?
Yes, CRID takes security seriously. All CRID data is stored on secure Amazon AWS servers and is encrypted both in the database and while in transit. Additionally, we do not use Google Analytics.
CRID Principles
• CRID is always free for the parent/patient
• CRID is always optional for research studies
• CRID data is private and will never be sold or shared with any third parties

>>What does a CRID look like?
A CRID identifier is an 8-character random string of letters and numbers that is unique to each patient.

>>How to use the CRID?
Patients can share their CRID identifier with investigators on research studies they are or have been enrolled in.

>>Why use CRID?
Many patients are unaware that their data is not shared with other researchers working on the same or similar diseases. They may also experience "survey fatigue" from being asked to complete similar forms for multiple studies. CRID allows for the sharing, reuse, and merging of data across studies by connecting deidentified patient information.

>>How do I create my CRID identifier?
To create a CRID identifier, visit the website https://TheCRID.org. If you do not already have an account, click on [Create an Account]. If you have an account, click on [Login]. To create a new CRID identifier for yourself or a family member, click on the [Add a New Person] button. There is also a short training video available on the website that demonstrates this process.
https://TheCRID.org

If you have any questions or concerns about CRID, or if you need assistance, you can send an email to [email protected] or [email protected]

Check out this video below for more information!
https://youtu.be/nUVJCehcVIo?si=b4cPkyG_YkKWZpEO

The CRID - Unique Universal Clinical Research ID

07/24/2025

📢 New Publication ‼️

"Moreover, the intake of probiotics, such as Lactobacillus and Bifidobacterium, promotes an increase in GABA in both the gut and the brain11,17,18......Here, we focus on the conversion of glucocorticoids into progestins by gut bacteria. Glucocorticoids are a class of corticoids that bind to the glucocorticoid receptor (GR) and thereby regulate glucose metabolism and aspects of immune function, including inflammation.4 By contrast, progestins act as both s*x hormones, regulating the menstrual cycle and pregnancy, and as neurosteroids, by modulating neuroactive receptors such as the gamma-aminobutyric acid (GABA) receptor and the N-methyl-D-aspartate (NMDA) receptor.19,20,21"

https://www.nature.com/articles/s41538-024-00253-2?fbclid=IwY2xjawLvTXVleHRuA2FlbQIxMQABHobFlPuPPt8tsYEG51DIz_eZehySZGv4yjEW4EaLmVF2xXFs2VlAVvxwqau__aem_CHnaVaGoOjkpgt2DiGhYyw

Gamma-aminobutyric acid (GABA) plays a crucial role in the central nervous system as an inhibitory neurotransmitter. Imbalances of this neurotransmitter are associated with neurological diseases, such as Alzheimer’s and Parkinson’s disease, and psychological disorders, including anxiety, depress...

05/14/2025

From our Co-Founder & CEO Miranda Cox:

My daughter, Scarlett, was diagnosed with a rare genetic mutation called GABRA1 at the age of two. Faced with a diagnosis that had no cure, no established community, and no clear path to treatment, my family and I had to quickly become experts, advocates, and champions for her future.

Since that day, I have dedicated myself to pushing the boundaries of what's possible for GABRA1 and other GABA-A ultra-rare genetic conditions. This mutation can lead to drug resistant seizures, developmental and intellectual delays, hypotonia, strabismus, epilepsy, autism, and behavioral challenges — a daunting set of symptoms for any family to navigate.

As a mother and advocate, I refused to accept this as her only reality. I co-founded the GABA-A Alliance, a globally supported nonprofit dedicated to raising awareness, advancing research, and pushing for life-changing treatments for GABRA1 and related conditions. I also started Scarlett's GABRA1 Village, the first dedicated support group for families navigating this rare mutation. Our mission is to empower families, connect researchers, and build a future where no one faces a rare disease diagnosis alone.

With today's advancements in genetics and biotechnology, we have the tools to find breakthroughs, but they need more than just science — they require community support, innovative business models, and strategic collaborations. This is why I’m dedicated to building these connections and bringing together the voices of patients, families, and experts who share our vision for a brighter future.

We need your support.

I believe that parents can drive change, and patient communities have the power to rewrite the future of rare diseases. If you're a parent, healthcare professional, biotech expert, investor, or simply someone passionate about making a difference, we invite you to join our Village. Whether you can volunteer, share your expertise, collaborate on research, or invest in our mission, every connection matters. Together, we can create the breakthroughs our children deserve.

www.gabaa.org

05/12/2025

We stand united as part of the 118 orgs representing the epilepsy community against federal efforts to cut epilepsy programs. The cuts impede health outcomes for people with epilepsy and stop vital research progress.

05/12/2025

We took time off Mother's Day to enjoy time with our families and celebrate the mom's who work tirelessly everyday to give our children the best life they could hope for. We hope you enjoyed your day, you deserve to be recognized! Thank you to all the GABA-A Mother's for your strength, resiliency, and love 🩷

04/22/2025

IN THE NEWS:

BOWIE, Md., April 14, 2025 (GLOBE NEWSWIRE) -- The 118 undersigned organizations – representing people living with epilepsy; caregivers and loved ones;...

03/12/2025

Our community is so blessed to have amazing individuals working diligently to find answers! Collaboration is everything! 👏👏

03/07/2025

We wanted to take a moment to share information on a key topic: the importance of genetic testing for patients who have received an autism & epilepsy diagnosis. We're connected with Probably Genetic, who conducts a program to help us address this issue by offering no-cost genetic testing for individuals suspected of having rare genetic disorders.

Why this matters:

+Current research estimates many GABA-A patients are undiagnosed

+Many families with GABA-A variants received an cerebral palsy or epilepsy diagnosis

+Many rare conditions may be hiding behind other diagnoses

+Early, accurate diagnosis can lead to better care and support

What we can do:

Firstly, if you or anyone in your community who may be in need of genetic testing, they or their caregiver can apply for testing using this link: https://bit.ly/41buAex

Secondly, we'd greatly appreciate it if you could help spread the word about this in any online community, especially those who may be dealing with misdiagnoses and who may benefit from knowing about this no-cost testing option. Together, we can help families access the genetic testing they need and deserve. I included the link again below to share.

https://bit.ly/41buAex

Questions? Comment below or reach out to Probably Genetic directly.

03/07/2025

Interested in submitting your sample to our biorepository bank? Send us a DM or visit www.gabaa.org/biobank for more information!