Cure Gaba-A Poland

08/22/2025

CURE GABA-A | Wielkie wieści!

Eleanor Elnekaveh, córka Moniki Joanny Elnekaveh, założycielki i CEO CURE GABA-A, otrzymała leczenie na zespół Retta.

Monika mówi: *„Teraz chcemy stworzyć takie same terapie dla receptorów GABA-A (GABAAR).

Najpierw u Eleanor zdiagnozowano GABRA1 i GABRG2. Dwa lata temu nasza rodzina sama zaczęła finansować tę terapię. Ale gdy później dowiedzieliśmy się, że Eleanor ma także zespół Retta, wstrzymaliśmy ten projekt.

Potem nawiązaliśmy współpracę z Grann Pharmaceuticals, aby stworzyć lek na zespół Retta, o którym czytaliście wczoraj w komunikacie prasowym. Lek został zatwierdzony przez FDA i Eleanor go otrzymała.

Na konferencji rodzinno-naukowej CURE GABA-A w 2024 roku Tommy zaprezentował ten projekt. Powiedzieliśmy wtedy, że musimy zebrać pieniądze, aby dokończyć to, co zaczęła rodzina Elnekaveh, i aby projekt GABRA1 mógł ruszyć z miejsca.”*

Tommy powiedział wprost: „Lek jest już gotowy i stoi w mojej lodówce, potrzebujemy tylko więcej pieniędzy, by kontynuować projekt.”

Teraz Agustina Fernandez przekazała darowiznę 30 000 dolarów w ramach funduszu matchingowego!

To naprawdę wyjątkowy moment. Mamy naukę, mamy partnerstwa. Teraz potrzebujemy tylko pieniędzy.

Jeśli kiedykolwiek był czas, by zebrać fundusze i dać dzieciom szansę na terapię, to właśnie teraz.

Wkrótce zaczynamy testy leku GABRA1 na myszach. Pomóż nam zebrać środki, aby to stało się możliwe!

Wesprzyj tutaj: https://curegabaa.org/donation-classy-v2/

[San Marcos, Calif.] — Grann Pharmaceuticals today announced a historic milestone in the development of transformative therapies for a rare and debilitating genetic disorder known as Rett Syndrome. The company’s very first patient, Eleanor Elnekaveh, has successfully completed the experimental t...

08/21/2025

CURE GABA-A | Czy wybierasz się na konferencję CURE GABA-A w Lizbonie?

Join the Conference CURE GABA-A 2025 European & American Conferences EUROPEAN CONFERENCE SOLD OUT! CURE GABA-A invites you to join us for two milestone events in 2025, the inaugural European CURE GABA-A Conference in Lisbon, Portugal and the third annual CURE GABA-A Conference in Atlanta, Georgia. A...

08/21/2025

/PRNewswire/ -- Grann Pharmaceuticals today announced a historic milestone in the development of transformative therapies for a rare and debilitating genetic...

04/21/2025

Charlie’s journey is one of resilience, love, and relentless pursuit of answers. Diagnosed with an ultra-rare GABRA2 genetic mutation, Charlie’s seizures beg...

10/23/2024

CURE GABA-A | Ambassador News

One of our Spain Ambassadors, Roberto Gonzalez, a dedicated parent and team member of CURE GABA-A, traveled to attend the first day of the World Orphan Drug Congress in Barcelona. He’s actively networking in Europe and seeking opportunities for CURE GABA-A.

One key issue experts raised during the conferences was the excessive regulation in Europe, making it difficult to establish uniform protocols across all 27 EU countries.

He also wanted to share an exciting update!

Next week, we’ll begin collecting biosamples from three children through our recommended physician in Santander. He plans to freeze the samples and grow fibroblasts for two weeks before sending them to the COMBINEDBrain Biorepository under CURE GABA-A. This is an amazizing step towards growing our bio bank.

COMBINEDBrain - Outcome Measures and Biomarkers for Neurodevelopmental

10/15/2024

CURE GABA-A | Medication Survey

https://filadelfia-science.dk/surveys/?s=TEX9JXNK3CPWTNA4

As we approach the 2024 CURE GABA-A Conference, we are excited to announce that Dr. Ortiz’s survey results, conducted by the Denmark team, will be presented by Dr. Rikke Møller.

Please click the link or scan the QR code to participate—it’s crucial that we share our medication data to advance toward more effective treatments.

This survey will contribute to a publication that will help ensure we receive the medications we need, prescribed by our physicians.

“We are working hard on the treatment survey - we will stop the inclusion of patients on the 24th of Oct, and then we need to perform the final data analysis.

In summary, we will have a lot to present at the end of this year :o)” - Dr. Rikke Møller

10/10/2024

CURE GABA-A | Patient and Caregiver Stories

https://curegabaa.org/submit-your-story/

We will have all of our researchers gathered in one room on December 6th for scientific day at our upcoming conference, and we’re planning to share patient stories with them.

This is your chance to have your story heard and seen by clinicians!

We’ll include a link to our stories tab on our website in the conference agenda, so if you haven’t done so already, please submit your story here:

10/07/2024

CURE GABA-A | Gene therapy proposal!!

We have some incredible news to share! Since our inception in 2023, CURE GABA-A has been dedicated to developing gene therapies for GABA-A receptor variants (GABAAR). We’ve curated an impressive database of researchers who share our vision: bringing therapeutics from bench to bedside (from the lab to our kids).

We’re thrilled to announce that Dr. Henry Lee, MPhil, PhD, Preclinical Scientific Program Manager Research Associate in Neurology at Harvard Medical School, has submitted a proposal through CURE GABA-A to explore gene replacement therapy (GRT) as a groundbreaking treatment for GABAAR-related disorders.

If awarded by Uplifting Athletes, this grant will be matched by CURE GABA-A, marking the fourth grant we’ve provided to researchers in the GABAAR space within just one year. We are advancing research by funding it!

The study aims to develop and test a novel AAV vector to deliver a functioning copy of the GABRA1 gene in mice. Positive outcomes could lead to new treatment approaches for other GABAAR variants, offering hope like never before.

Join us for an in-person conference in Los Angeles, California, at the OMNI hotel on December 5th & 6th, 2024. Registration is now open, and space is limited!

💰 Fundraising Efforts 💰
Fundraising is crucial right now—every dollar counts! Please create a classy fundraising page and share it with your friends and family. Our initial goal is to raise $2 million by the end of the year. If each family raises $5,000 to $10,000, we will reach our goal! That could be $1,000 from 10 friends or $100 from 100 people.

We’re also seeking volunteers to help us with our rapid growth. Our small team needs support to manage the influx of opportunities. Whether you can contribute an hour a week or up to 40 hours, we enthusiastically welcome your help. We need all hands on deck during this pivotal moment in our nonprofit and patient advocacy efforts. Your involvement is key!

For details, please email:
📧 monica@curegabaa.org
📧 agustina@curegabaa.org

Thank you for your continued support! Together, we can make a difference! 💖

CURE GABA-A website
https://www.CureGABAa.org

Conference Information
https://curegabaa.org/registration/

Fundraising
https://www.classy.org/campaign/cure-gaba-a/c559662

YouTube
https://www.youtube.com/channel/UCT8Du_C_8MKQvKLIyJO6DMQ

10/06/2024

CURE GABA-A | Exciting News!!

A new bio tech focused on gene therapy will collaborate with CURE GABA-A!

Disclaimer: The Elnekaveh Family has personally funded into the start-up Galibra Neuroscience, founded in 2023 by individuals with affiliations to Boston Children’s Hospital and Harvard Medical School.

While members of the family are involved in other non-profit and professional ventures, including CURE GABA-A, we maintain a clear separation of roles to prevent any potential conflicts of interest.

Galibra Neuroscience is an independent entity with its own leadership and operational framework. The co-founders, Henry Lee, MPhil, PhD, Senior Scientist and Program Manager at Boston Children’s Hospital, and Alexander Rotenberg, MD, PhD, Joseph J. Volpe Chair and Professor of Neurology at Boston Children’s Hospital, leverage their extensive experience and research to guide the company’s mission of improving patient outcomes.

Monica Joanna Elnekaveh serves as Founder and President of CURE GABA-A, while Amber Freed, Chief Development Officer, brings her expertise as the Founder & CEO of SLC6A1 Connect.

Galibra Neuroscience was founded in 2023 by a clinician and a scientist at Boston Children’s Hospital affiliated with Harvard Medical School. Our founders have over 25 years of experience in clinical care and translational research. We are directing our knowledge to improve patient lives.