IDefine

Big news for families! We have been invited to get early access to help test the upgraded AI Advocate from Citizen Health, called Ari.

Ari is an AI health companion that doesn't just answer your questions, but can take on the work for you – symptom tracking, appeals, spotting trends and more – acting as a proactive, human-like advocate designed to bring you relief.

You can sign up in two minutes here: https://www.citizen.health/ari/kleefstra-syndrome

A few things Ari can do to help take things off your plate:

📊 Symptom tracking
🛡️Appeal a denial
📅 Spot what’s coming
🔬 Read new labs

We are excited to announce a new research collaboration with UT Southwestern Medical Center aimed at developing a potential to treat (KS).

Led by Steven Gray, Ph.D., professor at UT Southwestern and director of the UTSW Gene Therapy Program, this two-year research effort will explore a possible treatment approach using advanced gene therapy technology designed to target the central nervous system. To learn more, check out our press release here: https://www.prnewswire.com/news-releases/idefine-and-ut-southwestern-announce-research-collaboration-to-advance-gene-therapy-for-rare-disease-kleefstra-syndrome-302789121.html?tc=eml_cleartime

This collaboration represents an important step forward for our community and reflects the growing momentum behind research that could lead to a first therapy for KS. By combining Dr. Gray and the UT Southwestern team’s scientific expertise with our commitment to accelerating meaningful research, this work has the potential to help shape treatment possibilities for individuals and families impacted by KS.

We are incredibly grateful to every family and advocate across the KS community whose ongoing support, encouragement, and dedication continue to make this progress possible. While there is still important work ahead, we are hopeful about what this research may mean for the future.

We love sharing ways our community can take an active role in moving (KS) research forward. And today, we are spotlighting one of the most impactful ways families can do just that.

Simons Searchlight is an international research registry that gives families a direct way to contribute to the science. By completing surveys and interviews, and through optional blood samples, the information your family shares gets passed directly to leading geneticists and scientists working to better understand KS worldwide.

People of any age with a KS diagnosis and their family members are welcome to join as participation can directly help fuel research that can make a positive difference for the KS community. Learn more and register here: https://research.simonssearchlight.org/account/create

There are so many stories from the broader community that remind us exactly why advocacy work is so important. This is one of them.

Nicole Johnson, co-founder of the FOXG1 Research Foundation, joined the Global Genes podcast to share the story of how she helped build an organization dedicated to advancing treatments for FOXG1 syndrome, an ultra-rare neurodevelopmental condition with no approved disease-modifying therapies.

This story is the same spirit that drives everything we do at IDefine for the (KS) community. We are so grateful to have peers like the FOXG1 Research Foundation who are paving the way and showing families everywhere what is possible when a community comes together around a shared purpose.

Give the episode a listen here:

How Parents Took Development of a Gene Therapy into Their Own Hands Nicole Johnson and Nasha Fitter, co-founders of the FOXG1 Research Foundation, discuss how a parent-driven foundation became a virtual biotech capable of advancing a gene therapy into human clinical trials, how they prioritized translational work over academic projects that don’t move a therapy to...

Our KS families include some of the most resourceful, determined caregivers out there, and you shouldn’t have to spend hours digging through records just to find answers.

That’s why we’re excited about Citizen Health's AI Advocate. It lets you upload your loved one’s medical records and ask questions in plain language, whether you’re preparing for an appointment, navigating an insurance appeal, or trying to track down medication history. What used to take hours can now take seconds.

We are partnering with Citizen Health to make sure the KS community is represented as this tool evolves. The more families who use it, the more we can help shape features that truly reflect our needs. Sign up for free at https://www.citizen.health/ai-advocate/kleefstra-syndrome

We are excited to host the 2026 North American Kleefstra Syndrome Conference, bringing together two incredible events in one landmark gathering this August!

The Scientific Summit: Advancing Therapeutics and Clinical Readiness for will take place on August 6-7, uniting leading researchers, clinicians, and biotech industry experts for two days of rigorous scientific exchange dedicated to accelerating treatments and improving care for the KS community.

The Family and Caregiver Conference: Empowering Families, Building Community, and Navigating Care will follow on August 7-8, offering parents, caregivers, and siblings a supportive and engaging environment to learn from top specialists, connect with other families, and celebrate our loved ones. Whether you are newly diagnosed or navigating the transition to adulthood, this conference was built with you in mind.

We’ve been hard at work to make this event come to life, and we cannot wait to bring our community together in the name of advancing research and knowledge for those impacted by KS. Stay tuned for more details on speakers, sessions, and the full agenda coming soon. Learn more and save your spot for the today: idefine.org/2026-north-american-kleefstra-syndrome-conference

Did you know there are two distinct genetic conditions that have historically been referred to as “Kleefstra syndrome”?

(KS), which IDefine focuses on, is caused by changes in the gene and is characterized by features including intellectual disability, limited or absent speech, and distinctive physical traits.

A separate condition, sometimes called Kleefstra syndrome 2 (KS 2), is caused by changes in the gene. While both conditions affect neurodevelopment, they are genetically distinct. It is worth noting that there is currently movement in the research community to rename KS 2 to reduce confusion between the two.

We are proud to recognize the KMT2C Foundation, an organization dedicated to raising awareness and driving research for those living with KMT2C-related conditions. To learn more about the organization’s important work, visit: https://kmt2c.org/

Only one week to go 💜 The countdown is on for the Benefit Concert!

On Friday, May 22, the Kalama Brothers will take the stage at the University of Redlands Memorial Chapel for a powerful night of live music, community, and impact. Every ticket purchased will support critical research into potential treatments for (KS), a rare genetic neurodevelopmental disorder.

Whether you join us in person or via livestream, you’ll be helping to bring hope to families across the KS community while being part of an unforgettable evening. Get your tickets today: GiveButter.com/LoveConcert

Encouraging to see continued progress from Unravel Biosciences with new developments related to a potential treatment option for and syndrome!

We’re grateful to our partners at Unravel for driving research to help discover potential treatments for . Learn more about our collaboration: https://www.idefine.org/1266-2/

Unravel Biosciences Announces First Patient Dosed in RVL-001 Proof of Concept Studies for Rett Syndrome and Pitt Hopkins Syndrome Unravel Biosciences, Inc., ("Unravel"), a clinical stage therapeutics company established to advance drugs for complex diseases through its Predictable Medic...