Accelerating Drug Development for Rare Kleefstra Syndrome with Geoff Rhyne IDefine

Geoff Rhyne, Co-Founder and CEO of IDefine, discusses the mission to advance research into Kleefstra syndrome, a rare genetic disorder, and to find a treatment where there is currently none. This organization of parents of children with KS is advocating for broader genetic sequencing to identify KS patients and differentiate the condition from other possible diagnoses, such as autism. Their research strategy is to first build the necessary infrastructure, including real-world data, model systems, and clinical guidelines, to de-risk the process for researchers and directly fund drug development. Geoff explains, "We're dedicated to advancing research, building community, and driving progress for Kleefstra syndrome. And the inspiration behind it is that a bunch of parents had impacted children. And, namely, for me, my daughter Ella received her diagnosis on February 26th, 2019. You asked a rare disease parent. Their diagnosis day and odds are they'll be able to rattle off pretty quickly because it is life-altering and changing. And once we looked around the landscape of Kleefstra syndrome and what was being done, we identified a need. And so a group of other parents and I came together and founded the organization in 2020."   "KS is one of these rare genetic disorders, and it affects brain development and basically every aspect of a child's life. And it could encompass developmental delays, feature delays, seizures, kidney issues, and cascading other conditions. So what happens with KS is that when you get the diagnosis, folks have often gone on a diagnostic odyssey. It's very rare that folks are being identified early on. And so we're part of that cohort that believes there are many more patients out there with KS, but the diagnostic odyssey is a real challenge. And so we typically will see kids receiving their diagnosis from three years to we've had someone diagnosed at 40 before, which is just a crazy experience as you can imagine." #IDefine #KleefstraSyndrome #EHMT1 #RareDisease #RareDiseaseResearch #NeurodevelopmentalDisorders #GeneticDisorders #PatientAdvocacy #CaregiverSupport #FamilyLedResearch #RareDiseaseCommunity #PrecisionMedicine #Genomics #MedicalResearch #ClinicalResearch #TranslationalResearch #DiagnosticJourney #PatientSupport #ResearchFunding #InclusiveCare #PatientVoices #RareDiseaseAwareness IDefine.org Download the transcript here