Understanding ITSN1 Gene Mutations
A resource for families affected by ITSN1 genetic variations
Welcome
If you or your child has been diagnosed with an ITSN1 gene mutation, you're not alone. This website provides information, research links, and a growing community of support for families navigating this genetic condition.
Our goal is to help families understand what ITSN1 is, connect with ongoing research, and eventually build a supportive community.
A Note from Owen's Mom
"Our son, Owen, is our ray of sunshine. When he was three, he began to withdraw and was later diagnosed with autism and a mutation in his ITSN1 gene. We were determined to help him and looked for answers everywhere."
"If you or your family is affected by ITSN1, you're not alone. It's our hope that by sharing our stories, we can all find strength and encouragement."
Read Her NoteLatest Research & News
🔬 Research
Dhindsa Lab Study
Groundbreaking research at Baylor College of Medicine into ITSN1 gene mutations and their impact on neurological development — advancing understanding and bringing hope for personalized treatments.
📣 News
Partnered with Simons Searchlight
Families can now join Simons Searchlight, an international research registry, to help advance research on ITSN1-related syndrome.
Get Started
Building Our Community
Meet Our Families
A growing number of families affected by ITSN1 are sharing their stories and partnering with researchers to advance understanding and treatment. Read Owen's, Cooper's, and Lucas' journeys — and learn why they support urgently needed research.
Meet Our FamiliesQuarterly Parent Meetings
We host quarterly online meetings where ITSN1 families connect, share experiences, and support one another. New families are always welcome.
Contact Us to Get Invited