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Completed iPS Lines for research (patient-derived):

GABRB2 :  c.896 T>G,   p.I299S (male, plus father control)

GABRB2:   c.737 T>C,   p.I246T (male, plus father control)

Contact for inquiries

         Combined Brain Biobank Project

Interested in participating in biomarker research? COMBINEDBrain is a non-profit consortium of over 60 patient advocacy groups for rare, genetic neurodevelopmental disorders. They recognize the need to collect patient samples for researchers to identify biomarkers to be used to treat /develop treatments for our children. They are on a mission to collect ~500 samples from our member organizations over the next 6-8 months and GABA-A Alliance, along with our patient support groups, is one of them. Samples collected from our community will be stored and available to researchers across the world.

Are you or one of your family members interested in participating in this exciting project for GABA-A related disorders?

Here are the basics:

Who: Any participant diagnosed with an GABA-A-related disorder or unaffected sibling.

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

Where: COMBINEDBrain is collecting samples all across the United States this year. Please see the list below of locations to find the closest biorepository collection to you. You may attend ANY of these meetings

Sample Size: Our goal is to collect 5-10 samples from each patient group

How: Contact GABA-A Alliance (email to further determine eligibility and the best way and location to participate.

Roadshow Locations:

U.S. Northeast

CTNNB1 Foundation

June 22-24

Madison, NJ

DYRK1A Foundation

June 23-25

Bethesda, MD


August 3-6

Queens, NY

COMBINEDBrain Meeting

October 15-16

Washington, DC

U.S. Midwest

IRF2BPL Foundation

September 22-23

Cincinnati, OH

KCNQ2 Cure Alliance

September 29-30

Chicago, IL

U.S. South

KDVS Foundation

July 19-21

Orlando, FL

Yellow Brick Road Project

July 30-August 2

Jacksonville, FL

TBRS Foundation

October 12-14

San Antonio, TX

SYNGAP1 Research Fund & SLC6A1 Connect

December 1-3

Orlando, FL

U.S. West

STXBP1 Foundation

July 21-23

Westminster, CO


October 5-7

Denver, CO

ADNP Kids Research Foundation

October 30-November 1

Los Angeles, CA

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