CSO Corner, Volume 3: Biorepositories

Hello fellow members of our KS family!

For this newsletter, I’d like to talk about biorepositories for rare disease, what it is, and why it is so important. For purposes of this discussion, I’ll use banking of blood of those with Kleefstra Syndrome (KS) as an example.

One question that often arises in rare disease is how patients with a given condition differ from their peers. So if you want so find out the answer to this for KS, you could get a volunteer with KS to give blood and then see if anything in their blood is different from the blood of a control (for example an unaffected sibling). Simple right? Not so fast.

People will show all kinds of variation in all kinds of experimental measurements, simply because they are people. We are a very diverse species! So you wouldn’t know if the difference seen between this KS patient and his/her sibling is because of KS, or just chance variability. To establish that a difference seen in blood is really indicative of KS, you will need a large number of people with KS to all contribute blood, and then look for a difference that is consistently shared in them, when compared to controls. Now we’re talking [1].



Meet IDefine's new director of development

Dear IDefine families and friends,

It is with extreme excitement that I share with you my new position at IDefine as the Director of Development! I have over 24 years of experience in the nonprofit sector from the March of Dimes where I served as Community Director, Executive Director, State Director of Development and Director of Strategic Volunteer Partnerships. I am thrilled to bring my experience to IDefine to help strengthen and grow financial impact, volunteer engagement, communication strategy and donor relationship development.

I am married to my husband, Robert, and the mother of two children, Emily, 18, and Mac, 16.  Mac arrived in this world with many problems, and it took being a huge advocate for him to get the care he needed. It ultimately landed us at Cincinnati Children’s Hospital, a 10-hour drive away to provide the best possible care for him. I know what it is like to have a child that needs medical assistance, and the time and effort it takes to provide them with the best possible care.


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.


Quick Clips on Kleefstra

  • IDefine Europe Scientific Conference:  The conference, "Moving towards the uptake and use of Artificial Intelligence (AI) in research and clinical work,” will be held on June 1st and 2nd in Ljubljana, Slovenia.  Register to attend virtually, and review the conference schedule to discover all of the great topics and speakers! 

  • Southern Roots Recap:  We are extremely pleased to share that the 2nd annual Southern Roots: A BBQ Reunion event held in April raised more than $50,000 for IDefine! Plans are already underway for next year's event to be held on April 20, 2024 in Travelers Rest, South Carolina. 

  • Worldwide Map: Our community is growing every day, and understanding where in the world our community members are helps in furthering our mission.  Make sure you are counted!  Kleefstra Syndrome Worldwide Map  

  • IDefine Slack Channel:  Interested in further connecting with IDefine and the Kleefstra community?  Join our IDefine Slack Channel!


IDefine, Inc
925B PEACHTREE STREET NE BOX 2173  | Atlanta, Georgia 30309

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