Opportunity to establish KS biorepository

With COMBINEDBrain we have the chance to collect Kleefstra Syndrome bio samples (e.g. blood), to be used by researchers in future projects. This is an opportunity to have your family’s sample used in research.

COMBINEDBrain is collecting samples from all its partner organizations of neurodevelopmental conditions and holding collection sites at partner conferences across the country, throughout the year.

Our goal as a foundation is to collect as many Kleefstra Syndrome samples from our community as possible, and we need your help. The more we collect, the better our chances to learn more about Kleefstra Syndrome.

What is a biorepository?

A biorepository is a facility that collects, catalogs, and stores samples of biological material (e.g. blood samples) for laboratory research.

Why are biorepositories important?

Did you know the research and medical community can purchase samples from biorepositories for research studies? We want to make sure Kleefstra Syndrome is represented in as many studies as possible and that means having samples from our community readily available.

Where do I go to get involved?

The COMBINEDBrain collection team is traveling around the United States now until December. See dates and locations for collections below:

CTNNB1, June 23rd-24th 2023 (Madison, NJ)

DYRK1A Foundation, June 23rd-25th 2023 (Bethesda, MD)

KDVS Foundation, July 19th-21st 2023 (Orlando, FL)

STXBP1 Foundation, July 21st-23rd 2023 (Westminster, CO)

Yellow Brick Road Project, July 30th-August 2nd (Jacksonville, FL)

Potential: KAND, August 3rd-6th 2023 (Queens, NY)

Potential: Global Genes, Sept 19th-20th 2023 (San Diego, CA)

IRF2BPL Foundation, Sept 22nd-23rd 2023 (Cincinnati, OH)

KCNQ2 Cure Alliance Conference, Sept 29th-30th 2023 (Chicago, IL)

Prader-Willi Syndrome/USP7 Foundation, October 5-7 (Denver,CO) 

TBRS Foundation, Oct 12th-15th 2023 (San Antonio, TX)

COMBINEDBrain Meeting, Oct 15th-16th 2023 (Washington DC)

ADNP Syndrome, Oct 30th-Nov 1st 2023 (Los Angeles, CA)

Potential: FAST Angelman, November 2023 (Orlando, FL)

SYNGAP1 Research Fund, Dec 1st-3rd 2023 (Orlando, FL)

SLC6A1 Connect, Dec 1st-3rd 2023 (Orlando, FL)

All you have to do is tell us you are interested by emailing unlock@idefine.org to start the process.

Then, on the day you simply walk into the designated conference location and follow the signs to the collection room. You don’t need to be registered for the conference.

Cannot travel but want to participate?

If you are within an hour’s drive of a conference location, let us know! Their mobile phlebotomist may be able to drive to your home.

How much does it cost to provide a sample?

It’s free!

Contact us at unlock@idefine.org if you would like to participate.