IDefine

IDefine is an active nonprofit rare-disease organization focused on Kleefstra syndrome, a neurodevelopmental disorder caused by EHMT1 haploinsufficiency. The organization combines patient advocacy, community building, and translational research funding with the explicit goal of enabling targeted treatments and eventual clinical trials for Kleefstra syndrome. Its activities include supporting specialized clinical care, funding natural history studies, building patient registries and biorepositories, creating disease concept models, and convening researchers and families. Rather than marketing an in-house therapeutic product, IDefine operates as a disease-focused research catalyst intended to de-risk and accelerate drug development for Kleefstra syndrome and related intellectual disability disorders.