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 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/

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...