The SON gene holds the key — the community holds the heart.
A global community of families, researchers, and supporters turning discovery into hope for every child with ZTTK.
fewer than 1,000
Known Patients Worldwide
40+
Countries Represented
~$300,000
Annual Research Budget
7
Active Research Projects
Three Pillars
Community
Find your community. Resources, ambassadors, and families who understand.
Explore COMMUNITY →Research
Follow the science. From gene discovery to gene therapy — track every milestone.
Explore RESEARCH →Just Received a Diagnosis?
You are not alone. Thousands of families have walked this path — and found each other. Start here for the resources, community, and hope you need right now.
Start Here →The Path to a Breakthrough
Where science stands — and where we're headed.
ZTTK Syndrome Identified
SON gene variant linked to syndrome by Tokita et al. — the discovery paper that named the condition.
Natural History Study — 52 Patients
Dingemans et al. published the most comprehensive ZTTK dataset, establishing the phenotypic spectrum across 52 individuals.
iPSC + JAX Mouse Models
Patient-derived iPSC neuronal models established. Jackson Laboratory mouse model collaboration launched via Ahn Lab partnership.
Biomarker Assays + Treatment Screen
ELISA biomarker assay development and initial small molecule repurposing screen underway.
First Therapy Candidate
First small molecule or gene therapy candidate identified from preclinical proof-of-concept work.
ZTTK Syndrome Identified
SON gene variant linked to syndrome by Tokita et al. — the discovery paper that named the condition.
Natural History Study — 52 Patients
Dingemans et al. published the most comprehensive ZTTK dataset, establishing the phenotypic spectrum across 52 individuals.
iPSC + JAX Mouse Models
Patient-derived iPSC neuronal models established. Jackson Laboratory mouse model collaboration launched via Ahn Lab partnership.
Biomarker Assays + Treatment Screen
ELISA biomarker assay development and initial small molecule repurposing screen underway.
First Therapy Candidate
First small molecule or gene therapy candidate identified from preclinical proof-of-concept work.
Community Happenings
A New Home for the ZTTK Community
Our new website is live — built for the nearly 500 ZTTK families worldwide, and everyone working alongside them toward a breakthrough.
Read more
Research Milestone Update 2026
Progress update on ZTTK research — our funded mouse model and natural history study projects continue to advance.
Read more
ZTTK Foundation Rings the NYSE Opening Bell
ZTTK families and affected children rang the opening bell at the New York Stock Exchange, bringing rare disease visibility to the global financial stage.
Read more
Your Gift Funds Life-Changing Research
Every dollar the SON-Shine Foundation raises goes directly to funding research, uniting families, and advancing the science of ZTTK syndrome.
Research Partners
