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To JOIN please select the Cure GABA A Variants Foundation for the biorepository donation. Cure GABA A Variants has set aside funding to pay for annual storage fees. 


Dates for Collection:

April 4-5th, Orlando, FL – Embassy Suites by Hilton Orlando Lake Buena Vista Resort


COMBINEDBrain is on a mission to collect ~500 samples from it’s member organizations such as Cure GABA A Variants over the next 6- 8 months. These samples will be stored and available to researchers across the world. 

Who: Any participant diagnosed with a COMBINEDBrain Disorder such any of the GABA A Variants:


Participants will generate a clinical research ID (CRID) to identify their sample. 

What: COMBINEDBrain will be collecting urine samples and blood samples (processed for plasma and a finger stick) to be stored in the CB Biorepository and available for select biomarker projects as well as other interested researchers. COMBINEDBrain will also collect several online surveys to be completed by caregivers. 

Sample Size: Our goal is to collect 20 samples from each patient group. 

Cost: Plasma and urine samples and finger sticks are free. Cure GABA A Variants will pay storage costs associated with these samples . If you need anything else collected or processed, please complete the following and select Cure GABA A in the form.

When: ANY participant may provide their samples at ANY of the below CB conferences dates are listed below.

2023 Dates

IRF2BPL Foundation, September 22nd, 9am-5pm (Home 2 Suites by Hilton, 7145 Liberty Centre Drive, Liberty Township, OH 45069) 

KCNQ2 Cure Alliance Conference, September 29th, 9am-5pm September 30th, 9am-3:30pm (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611)

Rory-Belle Foundation Conference, October 1st, 9am-5pm (13550 Commerce Blvd Rogers, MN 55374)

Prader-Willi Syndrome/USP7 Foundation, October 6th, 12pm-5pm; Oct 7th, 830am-4pm (1672 Lawrence St, Denver, CO 80202) 

TBRS Community, Oct 12th, 2pm-6pm; Oct 13th 9am-5pm 2023 (Morgan’s Wonderland, 5223 David Edwards Dr, San Antonio, TX 78233)

COMBINEDBrain Meeting, October 16th 2023 (Washington DC)

FAM177A1, October 29th 2023, 9am-5pm (2737 77th Ave Se Suite 101 Mercer Island, WA 98040)

KCNT1, November 4th 2023 (Los Angeles)

Cure GABA-A, November 5th 2023 (Los Angeles, CA)

POTENTIAL – Angelman Foundation, November 2023 (Miami, FL)

SYNGAP1 Research Fund, December 1st 2023 (8978 International Drive Orlando, FL, 32819)

SLC6A1 Connect, December 1st-3rd 2023 (9700 International Dr, Orlando, FL 32819)


*Dates and Times Subject to Change* 

Please email monica@curegabaa.org for more details 

2024 Dates

Orlando, FL – April 3-5
San Diego, CA – June 7-8
Philadelpheia, PA – July 20-21
Seatlle, WA – July 27-28
Atlanta, GA – September 25-28
Nashville, TN – October 12
Los Angeles, CA – December 4-5
COMBINEDBrain – Outcome Measures and Biomarkers for
Neurodevelopmental will be collecting whole blood, plasma, serum, urine, dried blood spot.
To create an iPSC cell line for your child a 10ml CPT tube (PBMC isolation) will be collected at an additional cost.

*Dates and Times Subject to Change* 

Please email monica@curegabaa.org cc: agustina@curegabaa.org for more details 

Why is biobanking important?

Biomarkers are like important clues in medical research about GABA A Variants. These variants are like different types of a special brain part.

Here’s why biomarkers are helpful for this research:

Finding and Learning About Variants: Biomarkers help scientists discover and understand different GABA A Variants. These variants can act in different ways and are linked to certain brain problems. Biomarkers are like signs that show which variant is which.

Diagnosing and Checking for Diseases: Biomarkers related to specific GABA A Variants can help doctors find out if someone has a brain problem. For example, they can tell if someone might have epilepsy, anxiety issues, or schizophrenia. These signs help doctors start treatment early.

Seeing if Treatments Work: Biomarkers help scientists check if treatments are working for people with GABA A Variants. This is really important because some brain problems need different treatments. Biomarkers help scientists and doctors know if the treatment is helping or not.

Making New Medicines: Biomarkers are like guides when scientists make new medicines for GABA A Variants. They help scientists choose the right ingredients and make sure the medicine works well.

Understanding How Things Work: Biomarkers give clues about how GABA A Variants work in the brain. This helps scientists understand why people have different brain problems and how they can fix them.

Predicting and Planning: Biomarkers can also help predict if a brain problem will get worse or not. This helps doctors make plans to help patients better.

Speeding Up Research: Biomarkers make research faster and easier because they show exactly what’s happening in the brain. This means scientists can do more experiments and learn more quickly.


In short, biomarkers are super important in GABA A Variant research. They help find, treat, and understand brain problems better, making things better for people with these issues.