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curegabaa

@curegabaa

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Our organization's sole focus is to develop potential therapies for GABA-A Variants by partnering with world renowned researchers in GABAAR

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CURE GABA-A | 1 Year of in human data

One year ago, Eleanor became the first child in the world to receive an investigational mRNA protein replacement therapy for Rett Syndrome developed by Grann Pharmaceuticals & the Elnekaveh Family.

As her mom, it changed our lives.

As the founder of CURE GABA-A, it became something much bigger than our family.

Today marks one full year of human data, a milestone that gives hope to rare disease communities around the world.

When Eleanor was diagnosed, there wasn’t a roadmap. There wasn’t a treatment waiting for her. Our family made the decision to personally fund Eleanor’s therapy. That was our commitment as her parents.

At the same time, our family also personally funded many of CURE GABA-A’s earliest research projects because we believed the progress we fought for shouldn’t stop with Eleanor. If we could help our daughter, we wanted to help every family still waiting.

Today, we’re watching that vision become reality.

One year of human data is helping accelerate mRNA therapies for rare diseases, including CURE GABA-A’s work with Grann Pharmaceuticals.

In the past year we’ve reached incredible milestones:

✔️ GABRA1 proof-of-concept mouse studies completed
✔️ Pre-IND submission underway
✔️ Large toxicology cohort of mice ordered
✔️ On track to dose our first GABA-A patient in Q2 next year, if development continues as planned

To every family who joined our registry, donated biosamples, volunteered, fundraised, shared your story, and believed in this mission, thank you. These milestones belong to all of us.

“Everything I did for my daughter, I did for CURE GABA-A. Every hardship, every mistake, and every lesson became the blueprint for our community. We invested in Eleanor’s future, and we invested in CURE GABA-A because I never wanted another family to start where we did. My mission has always been to shorten the path and accelerate treatments for every child living with a GABAAR disorder.”

For the first time, I truly believe we are no longer asking if treatments are possible.

We are asking how quickly we can bring them to our children.

This is only the beginning. Donate today to CURE GABA-A. by @curegabaa

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3 months ago

CURE GABA-A | GABRA1 Proof of Concept Project!!

https://www.eurekalert.org/news-releases/1096048

We are extremely proud to share that CURE GABA-A has signed a contract to work on a therapeutic for GABRA1!

This is just the beginning! With more funding we will be able to replicate this project on the other subunits!

Donate today to keep us going! https://curegabaa.org/donation-classy-v2/

CURE GABA-A (curegabaa.org) is proud to announce a new partnership with Grann Pharmaceuticals to advance a proof-of-concept program for nanolipid particle (NLP) therapy targeting GABRA1 variants.

This collaboration builds on Grann’s recent milestone achievement: the successful completion of the initial safety regimen of RTT-1 (ELEANOR), an mRNA lipid nanoparticle therapy for Rett syndrome, in its very first patient, Eleanor Elnekaveh, the daughter of our founder, Monica Joanna Elnekaveh.

Together with COMBINEDBrain, Agustina Fernandez, Sarah Poliquin, Amber Freed, and Roberto Gomez, CURE GABA-A is expanding a global network uniting families, researchers, and industry partners to accelerate therapeutic development for rare neurological disorders caused by GABAAR variants.

We are very thankful to the team by Katty Kang at the Vanderbilt team for breeding the GABRA1 mice.

We als want to extend heartfelt thanks to the Fernandez, Bornstein, and Elnekaveh Families for their generous financial contributions, and to our mentors and collaborators:

• Terry Jo Bichell (COMBINEDBrain)
• Amber Freed (SLC6A1 Connect)
• Mike Graglia (SYNGAP Research Fund)

This partnership marks the next step in our mission: advancing preclinical studies for GABRA1 protein replacement, with the goal of bringing transformative therapies to children and families who urgently need them.

👉 Learn more or support our mission: https://curegabaa.org/donation-classy-v2/

#GABRA1 #GABRA2 #GABRA3 #GABRA4 #GABRA5 #GABRA6 #GABRB1 #GABRB2 #GABRB3 #GABRG1 #GABRG2 #GABRG3 #GABRR1 #GABRR2 #GABRR3 #GABRE #GABRD #GABRQ #GABRP #GABAA #GABAAR by @curegabaa

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a year ago

CURE GABA-A | New research on GABRA2 and epilepsy!

A new study published on October 14 in Neurobiology of Disease is helping us better understand how changes in the GABRA2 gene can affect the brain.

Researchers in Belgium studied a child with a rare GABRA2 variant (A407K) who developed infantile spasms that later progressed to Lennox-Gastaut syndrome, a severe form of epilepsy.

So, what did they discover?

The researchers found that the GABAAR : GABA-A receptors were reaching the surface of cells normally, but they weren’t working quite as expected.

These receptors help regulate electrical activity in the brain. In this study, the genetic change affected how the receptors responded to GABA.

The team also created a mouse model carrying the same genetic change. They found that:

• Certain brain cells were closer to the point of firing electrical signals.

• When seizures were triggered in the mice, they lasted longer.

• The mice showed changes in movement and exploratory behavior.

Interestingly, the researchers did not observe spontaneous seizures in the small group of adult mice they monitored.

Why is this important for our families?

Before scientists can develop a treatment for a genetic disorder, they need to understand what the genetic change is actually doing.

This study gives researchers a better understanding of one specific GABRA2 variant and a mouse model they can use for further research.

It doesn’t mean a treatment has been found, and the findings may not apply to every GABRA2 variant. But it’s valuable information that could help guide future treatment research.

At CURE GABA-A, we’re interested in connecting with this research team and exploring how their work might contribute to treatment development.

Thank you to Jolien De Waele, Frank Bosmans, and the entire research team for this important contribution to GABRA2 research!

📖 Read the study: https://www.sciencedirect.com/science/article/pii/S0969996126003967

#CUREGABAA #GABRA2 #EpilepsyResearch #RareEpilepsy #LennoxGastautSyndrome by @curegabaa

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a day ago

CURE GABA-A | 🚨 Room block expires TODAY at 5 PM Eastern!

There are multiple conferences happening in the area that weekend, and many nearby hotels are already sold out or over $300/night.

CURE GABA-A’s room block is $169/night + tax at the Rosen Centre, close to the Hyatt where the conference will be held.

At 5 PM Eastern today, the remaining rooms are released back to the public. If you’re coming, please book now. 💙

🎟️ Conference tickets + hotel booking:
https://curegabaa.org by @curegabaa

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13 days ago

2026 CURE GABA-A Annual Conference: There are still some available tickets on the website!! See you there by @curegabaa

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14 days ago

CURE GABA-A | Conference

Researchers and physicians are flying in from around the world to meet patients and families in person at the 2026 CURE GABA-A Conference.

This will be our 5th CURE GABA-A Conference — two days bringing together families, clinicians, researchers, and therapeutic developers around one shared goal: accelerating better treatments for GABA-A Receptor (GABAAR) disorders.

CURE GABA-A is the largest GABA-A Receptor (GABAAR) patient advocacy organization, bringing together families globally and funding more GABAAR-focused research than any other patient group.

November 6 | Family Day
Hear directly about research underway, clinical care, therapies, support, and the work being done to move treatments forward.

November 7 | Scientific Day
Go deeper into therapeutic approaches, disease models, biomarkers, and what researchers are learning about GABA-A Receptor (GABAAR) disorders.

Come with your questions. Meet the people doing the work. Connect with other families who understand this journey.

Patient tickets are free with the purchase of a caregiver ticket.

📍 Orlando
📅 November 6–7, 2026
🎟️ Register at curegabaa.org by @curegabaa

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17 days ago

CURE GABA-A | Speaker

Do you have a gain-of-function GABA-A Receptor (GABAAR) variant?

Meet Professor Mimoun Azzouz, PhD, Professor of Translational Neuroscience at the University of Sheffield.

At the CURE GABA-A Conference, Professor Azzouz will share an update on a newly funded CURE GABA-A research project developing an RNA-silencing treatment approach for certain gain-of-function variants.

For some children, a genetic variant can cause the GABA-A receptor to be too active. This project is exploring whether we can turn down that harmful genetic message and help the receptor work more normally.

Come to Orlando to meet Professor Azzouz in person. He will be flying all the way from the United Kingdom to meet families and share this important work directly with our community.

This is exactly why families, researchers, and therapeutic developers need to be in the same room.

📍 Orlando
📅 November 6–7, 2026
🎟️ Register at curegabaa.org

#CUREGABAA #GABAAR #RareDisease #GainOfFunction #GeneticTherapy #RNASilencing #RareEpilepsy #DrugDevelopment
#GABRA1 #GABRA2 #GABRA3 #GABRA4 #GABRA5 #GABRA6 #GABRB1 #GABRB2 #GABRB3 #GABRG1 #GABRG2 #GABRG3 #GABRR1 #GABRR2 #GABRR3 #GABRE #GABRD #GABRQ #GABRP by @curegabaa

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19 days ago

CURE GABA-A | Speaker

Meet Jing-Qiong (Katty) Kang, MD, PhD, Professor of Neurology at Vanderbilt University Medical Center.

Dr. Kang’s lab helps characterize GABA-A receptor variants to understand whether they cause gain-of-function or loss-of-function, an important step in understanding what a child’s specific variant is doing and which treatment approaches may be relevant.

At the CURE GABA-A Conference, Dr. Kang will also share an update on research involving phenylbutyrate, the treatment approach connected to medicines such as Ravicti, and what researchers are learning about how certain GABA-A variants may respond.

For families, this is where the science becomes personal. You will be able to ask in person:

Is my child’s variant gain-of-function or loss-of-function?
Could phenylbutyrate help certain variants function better?
How does knowing the function help guide future treatment development?

Come hear the latest research and ask questions directly.

📍 Orlando, Florida
📅 November 6–7, 2026
🎟️ CUREGABAA.org by @curegabaa

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19 days ago

CURE GABA-A | YOU. Yes, YOU. 💙

If you’ve ever asked:

“What can help my child?”
“What research is happening?”
“What treatments are being developed?”
“Who is actually working on this?”

This is your opportunity to be in the room.

At the CURE GABA-A Conference, families will have the chance to meet researchers, clinicians, and therapeutic teams working directly on GABA-A disorders, and ask questions face to face.

You’ll hear about research already underway, potential therapeutic pathways, and what needs to happen next to move treatments toward patients.

Once a year, we bring this community together under one roof.

📍 Orlando, Florida
📅 November 6–7, 2026

🎟️ Conference tickets available through our website
🏨 Discounted hotel room block available through October 5

If you’ve been wondering what you can do for your child, showing up, learning, connecting, and becoming part of the research community is one powerful place to start.

We hope to see YOU there.

CUREGABAA.org by @curegabaa

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20 days ago

CURE GABA-A | You’ve waited all year for this!

You’ve asked, “What can I do for my child?” Here it is: come together with families who understand, hear directly from researchers working on potential treatments, and bring your questions.

In just three years, our community has helped move GABAAR (GABA-A Receptor) research forward. Join us as we share how far we’ve come, and what the next step is.

Family Day · November 6 · Orlando
Patient tickets are free with the purchase of a caregiver ticket. Register at curegabaa.org. by @curegabaa

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20 days ago

CURE GABA-A | Conference Sponsor

We are so excited to announce that Lundbeck will be sponsoring the CURE GABA-A Conference for the third time! 💙

This year, Lundbeck is supporting our Scientific AV & Media, helping us professionally capture important scientific and therapeutic updates shared in Orlando.

Their support helps us bring the science beyond the room, so families and stakeholders around the world who cannot attend in person can still benefit from what is shared.

We are incredibly grateful for Lundbeck’s continued support of the CURE GABA-A community and for helping us make these important updates more accessible to families everywhere. by @curegabaa

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20 days ago