Cure GABA-A: A year of transformative impact in the GABAAR community
Cure GABA-A has been nominated for the Global Genes Global Advocacy Alliance 2024 RARE Champions of Hope Awards, highlighting the organisation’s impact and dedication to fostering community and hope
As Cure GABA-A approaches the first anniversary of its 501(c)(3) status, the organisation reflects on a year filled with groundbreaking achievements and community-building initiatives. Founded by Monica Joanna Elnekaveh, Cure GABA-A has become a beacon of hope for families affected by GABAAR (GABA-A receptor) mutations, demonstrating remarkable progress in patient advocacy, research, and support.
A mission born from personal struggle
Monica Joanna Elnekaveh founded Cure GABA-A out of a deeply personal and urgent need. Faced with the devastating reality of her child’s GABAAR mutation and the lack of medical options, she was determined to change the narrative. When doctors told her there was nothing they could do, Elnekaveh resolved to find the people and the science that could provide answers and hope. Partnering with Amber Freed and organisations likeSLC6A1 Connect, SYNGAP Research Fund,andCombinedBrain,she transformed her vision into a robust non-profit dedicated to supporting families and advancing research in the GABAAR space.
Achievements in the first year
Cure GABA-A has made significant strides in its mission to support the GABAAR community through various initiatives and collaborations:
1. Establishing 501(c)(3) status
– Secured non-profit status, enabling Cure GABA-A to effectively fundraise, collaborate and expand its programmes.
2. Building a patient registry
– Registered over 200 children with GABAAR mutations, creating a critical database to support research and patient care.
3. Developing a comprehensive infrastructure
– Patient Resources Platform
– Offers personalised consultations with GABAAR researchers and access to a specialised clinician in Denmark
– Launched a characterisation project to identify whether GABAAR variants are loss or gain of function, facilitating more targeted treatments.
4. Promoting global research collaboration
– Created a global platform for researchers to share and collaborate on their work.
– Organised monthly scientific labs that bring together scientists, researchers and clinicians to discuss the latest advancements and challenges.
5. Expanding educational outreach
– Launched a YouTubechannelthat educates parents by featuring researchers who explain their work on GABAAR mutations in accessible language.
– Developed active social media platforms to connect and inform the community.
6. Advancing research funding and development
– Personally funded and awarded a $220,000 grant to the KattyKang Labin Nashville, Tennessee, which has contributed to research efforts in SLC6A1 (GABA transporter) which have led to the repurposing of a small molecule, PBA. Cure GABA-A’s funding led to three GABAAR subunits involvement in a clinical trial at Cornell University in New York.
– Collected patient biosamples for the creation of induced pluripotent stem cells (iPSCs), a significant step toward personalised medicine.
7. Hosting an annual conference
– Organised an in-person conference that brought together researchers, clinicians and stakeholders, encouraging collaboration and knowledge sharing.
8. Recognition and advocacy
– Nominated for the Global Genes Global Advocacy Alliance 2024 RARE Champions of Hope, highlighting the organisation’s impact and dedication to fostering community and hope.
Cure GABA-A’s initiatives have not only advanced scientific understanding but have also brought the community together. Through its educational efforts and active social media presence, the organisation has created a supportive network where families no longer feel isolated in their journey.
The annual conference has become a cornerstone event, uniting stakeholders and encouraging a sense of solidarity and shared purpose. Elnekaveh’s leadership and vision have transformed what began as a personal quest into a thriving community resource.
By partnering with influential figures and organisations in the rare disease field, Cure GABA-A has created a model of what patient advocacy can achieve in a short time.
Looking ahead
As Cure GABA-A marks its first anniversary, the organisation is poised to continue its mission with renewed vigour. Future plans include expanding its research initiatives and funding research dedicated to gene and protein replacement therapy. The momentum built in the first year provides a strong foundation for continued growth and impact.
In a space where few resources existed, Cure GABA-A has brought hope, information and community to families affected by GABAAR mutations. Its commitment to bridging gaps between research and the patient community is setting new standards for what patient advocacy groups can accomplish.
For more information about Cure GABA-A and to get involved, visitcureGABAa.org
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