Scarlett's Village

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HOME | GABA-A Alliance - GABA-A Genetic Disorders GABA-A Alliance's mission is to Improve the lives of individuals affected by GABA-A disorders through advocacy, connecting families and building support networks, and coordinating with scientific research. We aim to unite the GABA-A receptor disorders across the globe to advance this mission.

📢Facts About Rare Diseases| We Must Act Now❗️
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● More than 30 Million Americans live with one or more Rare Diseases
●The economic burden of 379 Rare diseases reached nearly $1 trillion in the U.S. in 2019
● Rare Disease patients wait an average 6.3 years before receiving a confirmed diagnosis
● Only 5% of the more than 10,000 known Rare diseases have a U.S. FDA approved therapies
● The U.S. FDA process for approval of a rare disease drug can take an average of 15 years

LETS TAKE ACTION!

Join the fight, see how you can help!
www.gabaa.org

We are stronger together, we are Gaba-A Alliance!

HOME | GABA-A Alliance - GABA-A Genetic Disorders GABA-A Alliance's mission is to Improve the lives of individuals affected by GABA-A disorders through advocacy, connecting families and building support networks, and coordinating with scientific research. We aim to unite the GABA-A receptor disorders across the globe to advance this mission.

Scarlett says to head into Prairie Street Brewing Co. And try the Limited Release Great Lager! In doing so, you're $1 is supporting our efforts in finding treatment solutions for not only GABRA1, but all GABA-A variants supported and guided by Gaba-A Alliance.

And for those who know, when Scarlett says go, you GO! 😆👏❤️

Can't make it out or live out of state? No problem! You can make a direct donation here: www.gabaa.org/donate

Official GABA-A Alliance Medical Network We are building a database to help GABA-A patients find doctors who have treated other GABA-A disorder patients globally. You can list doctors of any specialty--Neurology, Genetics, Cardiology, Ophthalmology, physical/occupational therapy, genetic counseling, and more. To share multiple doctors: ple...

We invite you to join our partner Gaba-A Alliance Official Parent Support groups!

These groups are parent led and have been established for years. It is a great way to connect with other parents, ask questions, have a sense of community & understanding, share stories, and be updated on current research and how your family can become a part of said research!
We look forward to hearing from you and are so glad you're here!
We are stronger together, we are Gaba-A Alliance!

For more information visit: www.gabaa.org

GABRA1:
https://www.facebook.com/groups/192847388581752
*Website: https://www.gabra1village.org/
*Twitter: https://twitter.com/GABRA1Village
*Fundraising: https://give.rarevillage.org/.../scarletts-village/c353196
*Linkedin: https://www.linkedin.com/in/miranda-cox-7413ab90
*Public page: https://www.facebook.com/scarlettsgabra1village/
GABRA2:
https://www.facebook.com/groups/1510484273059597
GABRA3:
https://www.facebook.com/groups/278145434607274
GABRA4:
https://www.facebook.com/groups/948510869790629
GABRA5:
https://www.facebook.com/groups/802636641232644
GABRA6:
https://www.facebook.com/groups/211308065171429
GABRB1:
https://www.facebook.com/groups/1117576368442995
GABRB2:
https://www.facebook.com/groups/154303411788101
*Website: https://www.curegabrb2.org/
*Public Facebook group: https://www.facebook.com/Gabrb2
*Fundraising: https://give.rarevillage.org/campaign/cure-gabrb2/c349410
*Twitter: https://twitter.com/CGabrb2
GABRB3:
https://www.facebook.com/groups/2460533920883846
https://www.facebook.com/groups/272337333856747
Europe/Italy: www.gabrb3.com
GABRG1:
GABRG2:
https://www.facebook.com/groups/312532302237103
https://www.facebook.com/groups/1555307151329529
GABRG3:
GABRE:
GABRD:
GABRQ:
https://www.facebook.com/groups/211724275092019
GABRP:
Did we miss one?
DM us directly or Email us at [email protected] to be added to the Official List

HOME | GABA-A Alliance - GABA-A Genetic Disorders GABA-A Alliance's mission is to Improve the lives of individuals affected by GABA-A disorders through advocacy, connecting families and building support networks, and coordinating with scientific research. We aim to unite the GABA-A receptor disorders across the globe to advance this mission.

Disability is a part of the human experience!

Let's go Camden👏👏

Have you heard of The Crid?

• The CRID is a patient-generated identifier specifically for use in clinical research. The parent/patient decides who to share it with.
• Patients and parents no longer need to handover sensitive PII/PHI to research studies.
• There's a significantly less chance of a person having multiple IDs because the patient generates and shares their own CRID.
• The CRID identifier addresses privacy issues because no PHI is shared and it's the patient that decides to share their CRID identifier.
• Parents and patients can gain visibility into the research studies they're enrolled in.
• The CRID identifier can reduce 'survey fatigue' because previously provided information can be identified and reused.
• It's significantly easier for different research studies to merge, share and compare patients' clinical data.

And it's always FREE!

For more information visit: https://thecrid.org/

Hello Gabra1 Fam,

Just a quick update! Justin LeBlanc, Jillian Provost and I have started a non-profit for all GABA-A mutations called GABA-A Alliance. Our website is gabaa.org, feel free to check it out and let us know if you have any questions or suggestions! We are very excited for this new endeavor and hope this will be a way for us to make headway on treatments & research for our children.

Feel free to DM me with any questions or concerns.

Kindly,
Miranda

HOME | GABA-A Alliance - GABA-A Genetic Disorders GABA-A Alliance's mission is to Improve the lives of individuals affected by GABA-A disorders through advocacy, connecting families and building support networks, and coordinating with scientific research. We aim to unite the GABA-A receptor disorders across the globe to advance this mission.

📢New Publication Alert📢

Thank you to Dr. Møller and her team for all their hard work on finding treatments for GABA-A disorders!...................

Following a positive report of the use of vinpocetine in a patient with a loss-of-function GABRB3 variant, we here describe another patient with a loss-of-function GABRA1 variant (p.(Arg112Gln)) who benefited from vinpocetine treatment.

This patient was diagnosed with autism spectrum disorder, psychiatric complications, and therapy-resistant focal epilepsy. Upon add-on treatment with 40 mg vinpocetine daily for 16 months, the patient experienced an overall improved quality of life as well as seizure freedom. Our findings corroborate that vinpocetine can attenuate epilepsy-associated behavioral issues in patients with loss-of-function GABAA receptor gene variants.

Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a GABRA1 loss‐of‐function variant Vinpocetine is a synthetic derivative of the alkaloid vincamine and has been used as a dietary supplement for decades. Following a positive report of the use of vinpocetine in a patient with a loss-o...

Hey there!

Check out this press release announcing a grant CombinedBrain received from Chan Zuckerberg Rare As One project!

Chan Zuckerberg Initiative funds COMBINEDBrain to fast track research for rare neurological disorders COMBINEDBrain, a non-profit consortium dedicated to helping fast-track cures for rare, genetic, neurological disorders, receives an unexpected grant from the Chan Zuckerberg Initiative ( CZI)

Don’t forget to sign up for Invitae’s Ciitizen Rare Patient Network. It’s one of the easiest things you will do this year to help research, and you get access to your own portal to manage all your medical records. All you need to join is your child’s birth certificate, your driver’s license and the list of specialists that have treated your child over the years so the Invitae team can collect the medical records on your behalf and at no cost. US Patients only.

Rare Patient Network - Ciitizen Join our Rare Patient Network Medical records made easy, research made possible. Now supporting childhood onset of epilepsy and/or developmental delay. Get started Join our Rare Patient Network Now supporting childhood onset of epilepsy and/or developmental delay. Join Now Loading Get started Benefi...

We’re excited to announce our partnership with Invitae’s Ciitizen Rare Patient Network to build a strong natural history study from patients’ medical records. Signing up is free. You get access to all your medical records in one place, and information from your records will help gain a better understanding of better and get us closer to treatment. US Patients only.

Rare Patient Network - Ciitizen Join our Rare Patient Network Now supporting childhood onset of epilepsy and/or developmental delay. Get started Join our Rare Patient Network Now supporting childhood onset of epilepsy and/or developmental delay. Join Now Loading Get started Overview Benefits How it works Reasons to join Testimonia...

Happy Rare Disease Day!

As always, those of us with a rare disease or family members that are living with one everyday, today is about YOU!

A special day for them to be recognized. is an important day for advocates to raise their voice and join together to recognize those who are diagnosed and those who are pushing for cures, like Scarlett's Village.

How are you showing your stripes?

Visit www.gabra1village.org to learn more about and how you can get involved!

Today is ! 🦓

NORD is so thankful for everyone in our rare disease community, and we are proud to advocate alongside you. Today, we celebrate YOU: your life, your story, your struggles, and your achievements.

Be sure to tag us in your posts throughout the day as you celebrate! Learn more and share: bit.ly/RDD2023

"A small number of newborns have a mutation in a gene that codes for a specific receptor in the brain – the GABA receptor – and this can lead to learning difficulties and epilepsy that is not easy to treat. As this receptor inhibits brain activity, it has been hypothesised that such mutations lead to reduced receptor function and, therefore, to hereditary epilepsy.

However, researchers have recently discovered that this mutation can often lead to enhanced receptor function. Using both stem-cell and mouse models, Professor Rikke Steensbjerre Møller and her project partners will study how mutations that lead to increased receptor function trigger epilepsy and investigate potential new medications to treat patients.

‘By working closely together across specialities, our research will hopefully lead to a fundamental change in our understanding of the underlying mechanisms of genetic epilepsy, as well as explain how a paradoxical increase in inhibitory impulses can cause seizures. Our work will also pave the way for developing new medications for patients with increased GABA receptor activity in the brain,’ explains Professor Møller of Filadelfia Epilepsy Hospital."

Hereditary epilepsy breakthrough Rikke Steensbjerre Møller receives DKK 20 million grant from the Lundbeck Foundation’s Collaborative Projects programme

This!

We are live on Twitter! Follow us here: https://twitter.com/GABRA1Village?t=Nqi2fa_4Ozyp7zoerlvDyA&s=09

Also, check back soon for new details on our website coming very soon!

Scarlett's GABRA1 Village (@GABRA1Village) | Twitter The latest Tweets from Scarlett's GABRA1 Village (). Supporting GABRA1 gene mutation research Fund: https://t.co/B2O07nQp5W Parents: https://t.co/ENl5kXFoc7