Keynote: From Diagnosis to Treatment — Wendy Chung, MD, PhD | 2026 ZTTK Global Conference

Dr. Wendy Chung on the real timeline from diagnosis to gene-editing treatments — and why family data and registries make it possible. In her keynote, Dr. Wendy Chung — Chief of Pediatrics at Boston Children's Hospital and a leading clinical and molecular geneticist who has helped identify the genetic basis of more than 60 rare diseases — lays out the real pathway from diagnosis to treatment for rare neurodevelopmental conditions like ZTTK syndrome (SON gene). She covers the GUARDIAN newborn screening study, the science and safety hurdles of gene editing aimed at the brain, and why every family's participation in registries and natural history studies is the foundation everything else is built on. The talk closes with audience questions on gene-editing risk and timelines, animal-model policy, and global access to care. Chapters: 00:00 Introducing Dr. Wendy Chung 01:41 The rare disease ecosystem: rare but not alone 05:58 A career-defining patient and the origin of newborn screening 08:20 The GUARDIAN study: sequencing every newborn 11:18 From care to cure: the case for gene editing 15:07 Building the scientific foundation for clinical trials 20:03 Center for Therapeutic Genetics: Broad, Boston Children's, Jackson Labs 21:44 Why your data matters: registries and participation 28:05 Case study: one patient's ASO to community-wide treatment 32:06 Audience Q&A: gene editing, animal models, and global access Recorded July 18, 2026 at the 2026 ZTTK Global Conference in Cambridge, MA, hosted by the ZTTK SON-Shine Foundation — uniting families, clinicians, and researchers working toward better treatments for ZTTK syndrome (SON gene). Learn more about ZTTK syndrome: https://zttk.org Conference recap: https://zttk.org/fundraise/conference...