Building a
brighter future.

IDefine is committed to identifying life-changing treatments & cures for those with Kleefstra syndrome (KS), a neurodevelopmental disorder caused by a loss of function in one copy of the gene EHMT1.

Newly diagnosed?

To learn more about IDefine’s current efforts, please read this update of our Foundation Highlights!

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Organizational Update

An Overview of Year-to-Date Successes, Projects, and Goals!

2023 has been a big year so far, and as we look ahead at these last two months, we review the landscape of where we are and where we need to be.  We are laser focused on building our community, furthering the coordinated clinical care we’ve established, and driving our research efforts towards our ultimate goal of a treatment.
 
Discover more up-to-date information on Kleefstra Syndrome by watching the presentations from our 3rd Annual Kleefstra Syndrome Family + Scientific Conference!  From sleep studies to seizures, digital natural history studies to antisense oligonucleotide (ASO) treatment potential, the conference covered information that is impacting patients, families, and caregivers on a daily basis.
 
We are looking forward to closing out 2023 strong!  
Foundation Highlight report

Our Blog

Drake family
Regression in Kleefstra Syndrome
One of the most devastating aspects of Kleefstra Syndrome – and something KS parents fear the most – is regression, meaning the loss of developmental skills,...

IDefine is a nonprofit organization that exists to provide a central community for families affected by Kleefstra Syndrome (KS)

Recent Newsletters

Stay in tune with the latest community news!

Prof. Kleefstra Recruited to New Hospital, Southern Roots Reunion Recap, Upcoming Opportunity Outside of Philadelphia for Research

IDefine Europe connects communities, 5K for KS, New Report on Rare Disease Developments

The Importance of ICD-10 Codes, ACE Fundraising Initiative, Celebrate Rare Disease Day

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2024 North American Family Conference Survey

We're planning NOW!

We are thrilled to begin planning for our 2024 North American Kleefstra Syndrome Family Conference!  In 2022, families from across the United States and Canada gathered outside if Chicago for several days of community building, informative sessions, and support.  We can’t wait for next year!

Take the survey now

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Support our cause

Our “ I Love Someone Rare” Campaign products are available for purchase now. All proceeds….

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I Love Someone
Rare T-shirt

I Love Someone Rare
Water Bottle

I Love Someone
Rare Mug

We would love to hear from you.

If you have any questions feel free to contact us. We will be sure to get back to you as soon as possible.