Translational Science of Rare Diseases

The 2025 Connect & Collaborate Okur–Chung Neurodevelopmental Syndrome (OCNDS) Scientific and Family Conference convened researchers, clinicians, and families to accelerate discovery and translation of research for OCNDS. OCNDS is an ultra-rare disorder caused by pathogenic variants in the CSNK2A1 gene. Nearly 200 participants joined the 4-day event featuring 17 scientific talks, 15 family sessions, and multiple roundtables integrating patient and researcher perspectives. Scientific sessions covered CK2 biology, variant functional studies, model organism pipelines, and early therapeutic exploration. Family sessions emphasized speech and language outcomes, sleep and behavioral challenges, and barriers to clinical care. Crowdsourced researcher-family dialogues identified shared priorities for the next research phase, including developing measurable clinical endpoints, expanding biobanking and variant data infrastructure, and focusing on translational models to enable preclinical testing. These priorities will steer the next several years of OCNDS research and collaboration, driving coordinated advances toward clinical translation.

Trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome) have historically been regarded as “uniformly lethal” or “incompatible with life,” leading to the longstanding practice of withholding resuscitation and surgical intervention. However, accumulating evidence indicates that survival is more heterogeneous than previously recognized, and advances in neonatal and surgical care have improved outcomes. Among long-term survivors, gradual yet meaningful developmental progress has been observed, and parental reports describe affected children as happy and deeply valued members of their families. These findings have reshaped clinical and ethical perspectives, fostering a paradigm shift from uniform non-intervention toward individualized, family-centered decision-making. In parallel, the widespread adoption of noninvasive prenatal screening (NIPS) has markedly increased prenatal detection, further complicating perinatal counseling and underscoring the need for ethically consistent care. This narrative review summarizes current and evolving evidence on survival and treatment outcomes for trisomy 18 and trisomy 13 and synthesizes contemporary approaches to comprehensive care from the neonatal period through childhood. Within this evolving landscape, we propose a practical framework for counseling and iterative shared decision-making with families. Integrating accurate and up-to-date medical information with family perspectives is essential to provide compassionate, balanced, and equitable care for infants with these syndromes and their families.