IDefine

05/10/2026

Wishing a happy to all the amazing moms in our community!

We know that so many of you carry countless roles every single day, balancing the responsibilities of being an advocate, caregiver, and source of strength all at once. Through it all, you continue to show up with extraordinary love for your children and families. We recognize the resilience it takes, the sacrifices that often go unseen, and the deep joy that exists alongside the challenges you face throughout your journey.

Today we celebrate you and thank you for all that you do for this community 💜

05/07/2026

We are 2 weeks away from the Benefit Concert on Friday, May 22 at the University of Redlands Memorial Chapel. Join us for a high-energy night of live music with the iconic Kalama Brothers, all to support critical research into potential treatments for (KS), a rare genetic neurodevelopmental disorder caused by a mutation or deletion of the gene, which plays an important role in brain development and function.

This concert was inspired by Eleanor, the 8-year-old daughter of our co-founder Mason Harrell. Eleanor loves gymnastics, lights up every room she walks into, and greets everyone she meets with a completely open heart. She also lives with KS, and like many children with this condition, faces the risk of severe regression as she grows, losing the skills, words, and independence she has worked so hard to build.

Every dollar raised goes directly to funding genetic research that may bring us one step closer to treatments that could change the trajectory of life with KS.

Grab your tickets today or tune in via livestream: givebutter.com/LoveConcert

04/24/2026

This , we’re thinking of every family in our (KS) community navigating questions about .

Research supported by organizations like our partner, the Simons Foundation Autism Research Initiative (SFARI), shows that changes in the gene can be linked to features associated with autism.
But as Dr. Wendy Chung, Chief of Pediatrics at Boston Children’s Hospital, explains, KS is a genetic diagnosis and autism is a behavioral one. Some people living with KS may be diagnosed with autism, while others may show similar traits without a formal diagnosis.

For more information and support, we encourage you to read our guide on autism in KS designed with families in mind: https://www.idefine.org/understanding-autism-spectrum-disorder-asd-in-kleefstra-syndrome-a-guide-for-families/

04/22/2026

The countdown to the first Benefit Concert is on, and we are so grateful for our sponsors whose support is making this special event possible!

Whether you join us in person at the University of Redlands Memorial Chapel or watch the livestream from home, you can expect a high-energy, exciting performance featuring live music by the Kalama Brothers. Every dollar raised will help fuel research to advance potential treatments for (KS).

Get your tickets today to be part of this unforgettable evening dedicated to the KS community on Friday, May 22 at 7 p.m. PT: https://givebutter.com/c/LoveConcert

04/21/2026

When KJ was born, his family was told that he had a rare genetic disease with life-threatening consequences. One year later, he’s thriving at home thanks to a personalized treatment designed specifically for his DNA using gene editing technology.

In a recent opinion piece by The New York Times, Jeff Coller, PhD, director of the RNA Innovation Center at Johns Hopkins University, shares what this promising breakthrough could mean for the future of care.

Dr. Coller highlights that advances in gene editing and mRNA technology may make it possible to develop a therapeutic approach that can be adapted to treat different genetic conditions, but there’s more work ahead to create the systems required to bring personalized therapies to the communities that need them.
Read the full article here:

We can’t let the most important medical achievement of a decade slip through our fingers.

04/20/2026

Thank you to everyone who joined us for a special evening of community, art, and impact at our “Ella’s Buddies” event.

Together, we helped raise awareness and critical funds for research in , all while enjoying live music by the Trapfire Brothers and New Dawn Starkestra, great food from a local favorite Chicora Alley, and a silent auction featuring amazing artwork by contemporary artist Taylor "Tj" Eisenhart.

Check out these photos from the event to see the one-of-a-kind piece that went home with the winning bidder!

04/10/2026

Today we’re honoring . In the (KS) community, siblings grow up with a unique perspective, often becoming one of the first friends and advocates who help others better understand their brother or sister who lives with KS.

Creating space for siblings to connect and feel heard is an important part of supporting the whole family. That’s why we’re grateful to partner with organizations like The Sibling Support Project to host a special “Sibshop” workshop during the 2026 North American Kleefstra Syndrome Family + Scientific Conference. During the session, siblings will have the chance to share their experiences and gain practical tools to help express themselves with confidence.

To every sibling in our KS family: thank you for the care, patience, and love you show every day. It makes all the difference.

04/09/2026

One concert. One cause. Real impact. 💜

Join us on Friday, May 22 at the University of Redlands Memorial Chapel — or tune in via livestream — for the I Love Someone Rare Benefit Concert! We’re hosting a high-energy night of live music with the iconic Kalama Brothers, all to support critical research into potential treatments for (KS).

KS is a rare genetic neurodevelopmental disorder caused by a mutation or deletion of the gene, which plays an important role in brain development and function. With no available targeted therapies, the unmet need faced by the KS community is substantial.

At the Benefit Concert, every dollar raised goes directly to genetic research bringing us one step closer to treatment options that may help change what’s possible for KS families.

Grab your tickets today for an evening of music, community, and purpose: https://givebutter.com/c/LoveConcert

04/08/2026

We can’t wait to see everyone at the 2026 Southern Roots Reunion! Each year, this outstanding festival offers an opportunity to celebrate the progress we have made as a community and help raise funds to support further research in (KS).

Whether you’re new to IDefine or have been with us since the first Reunion in 2022, we’re excited to welcome you for a day filled with delicious BBQ, live music, and a thoughtfully curated artisan market – all to help make a positive difference for the KS community.

All-inclusive general admission tickets are still available! Grab yours at https://www.southernrootsreunion.com/ to join us on Saturday, April 11 at Trailblazer Park in Travelers Rest, South Carolina.

04/07/2026

We’re pleased to share another exciting research update for the (KS) community! Today we announced a collaboration with Unravel Biosciences that aims to accelerate the discovery of potential treatments for KS.

As part of the collaboration, Unravel will study data from 20 individuals living with KS using advanced, AI-powered tools to help identify new potential treatment options and build a stronger understanding of the condition. Participation is designed to be as accessible as possible, using non-invasive nasal swab samples that can be collected from anywhere in the world with no travel required.

Thank you to everyone in our KS family whose support has helped us take this important next step as we transition from becoming “Research Ready” to expanding our “Treatment Focused” strategy. To learn more about the partnership, read our press release here: https://www.idefine.org/1266-2/

04/03/2026

In case you missed it: We recently announced a partnership with the University of Chicago Department of Chemistry to advance new research in (KS), centered on a simple but powerful idea.

KS is caused by damage to one copy of the gene, but people living with KS still have a second, healthy copy. What if we could on that second copy to help restore what's missing?

As our Chief Scientific Officer Eric Scheeff, PhD, explains, the situation is a bit like having two car factories contributing to the same total output. If one factory shuts down, you are left operating at half capacity. But if you can ramp up production at the remaining factory at twice the pace, it may be possible to make up the difference.

Check out our latest newsletter for more perspectives from Eric on this important research for the KS community: https://www.idefine.org/cso-corner-volume-14-turning-up-the-volume-on-ehmt1/