Research 🇬🇧 Directly KS related

[Video] Kleefstra Syndrome: Development of RNA Amplifier Therapy

person Madaline Spencer, CheckRare

calendar_today Aug 31, 2026

Eric Scheeff, PhD, of iDefine discusses investigational RNA amplifiers for Kleefstra syndrome, aiming to increase activity from the remaining EHMT1 gene in this haploinsufficiency condition. The work is described as treatment development with Johns Hopkins researchers; current KS care remains supportive and no disease-targeting therapy is approved.