The KCNQ2 Biorepository

Through our partnership with COMBINEDBrain, the KCNQ2 Cure Alliance has started to generate a collection of biological samples, called a biorepository. Different types of biological materials have been preserved and stored so that they can be requested by academic and industry professionals who are interested in studying KCNQ2-related disorders.

What samples do we have?

Thanks to your efforts, we have collected samples from 26 individuals with KCNQ2-related disorders, as well as from 13 people who do not have KCNQ2-related disorders (often used as control samples for comparison). With these samples, we have over 20 different genetic variants represented, and ages ranging from 1.5 – 14 years old.  

Regular Sampling Helps!

Providing blood samples every 6-12 months helps us to see how blood changes over time. When their biological sibling(s) and parents also give blood, their changes can be compared as well.

What can be done with these types of materials?

Our current biorepository contains urine, plasma, whole blood, and dried blood spot cards. Each donated sample contains valuable biological information that helps researchers better understand how the body is functioning. 

• Whole blood gives the most detailed genetic information, making it a great option for in-depth analyses.
• Dried blood spot cards capture less of this detail but are easy to collect and send, making them another great option.
• Urine and plasma samples provide additional information and can be used to analyze proteins and other small molecules in the body.

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Interested in Participating?

Email KCNQ2 Cure Alliance at research@kcnq2cure.org with the following information for each person from whom samples will be drawn:

• Name of person (KCNQ2 Cutie)
• Place and date where you’d like to have samples taken
• Name of caregiver giving consent (for KCNQ2 Cuties or non-adult siblings)
• Email of caregiver giving consent
• Phone number of caregiver giving consent

2026 Roadshow Dates & Locations

Dates and locations for 2026 are below and will be updated periodically when more information and/or additional sites are available. For a complete, up-to-date list of addresses, see HERE.

Below are confirmed Roadshow stops for 2026:

• March 19–20 – San Antonio, TX

• April 9–10 – Orlando, FL

• April 16–17 – Ellicott City, MD

• June 13–14 – Denver, CO

• June 18–19 – Orlando, FL

• June 24–25 – Concord, NC

• June 26–27 – Ann Arbor, MI

• June 27–28 – Boston, MA

• July 14–15 – Asheville, NC

• July 17 – Bethesda, MD

• July 17–18 – Philadelphia, PA

• July 18 – Boston, MA

• July 20–21 – Galveston, TX

• October 8–9 – Boston, MA

• October 9–10 – Philadelphia, PA

• November 7 – Austin, TX

• December 3–4 – Denver, CO