Education and support for families and individuals affected by TUBB3 variants
TUBB3 is a human gene located on chromosome 16 that codes for a protein called beta-tubulin III. When a TUBB3 gene has changes, or mutations, that have caused a problem in a person’s body it is called TUBB3-related Tubulinopathy. This is an ultra-rare genetic disorder that is diagnosed through genetic testing. TUBB3 variants can be inherited or de novo, meaning occurring for the first time in the family. Though individuals with the same variant in TUBB3 often share many similarities, symptoms can vary from person to person and range in severity. TUBB3-related Tubulinopathy can cause eye movement disorders, or it can affect the greater nervous system, or both. Individuals may have motor, social, or intellectual disabilities. They may have seizures, muscle weakness, brain malformations, and more. Some people with variants in TUBB3 grow up to become independent, and some will need lifelong assistance with daily functioning. There is currently no cure, but some symptoms can be treated with therapies, surgery, and medications.
People with variants in TUBB3 are us and people in our families. They are people living with Tubulinopathy each day and reaching for their dreams.
Common Symptoms
Defying the Odds: A Life Beyond Diagnosis When my son was first diagnosed with Autism Spectrum Disorder (ASD), we believed we finally had an explanation for the differences we had seen as he grew. Like many families navigating an early autism diagnosis, we focused on understanding his world and helping him develop the skills he needed to thrive. But that diagnosis would later turn out to be just one part of a much bigger and more complex story.
Come join other families and individuals with TUBB3 variants to connect and ask questions. Our next TUBB3 Family Connect will be October 15th, at 7:00 PM Central Time. We hope you can join us!
We envision a world where TUBB3 variants are more easily diagnosed, where individuals and families affected can have a deeper understanding of TUBB3 related Tubulinopathy through research as well as connections with other families, and where individuals have access to interventions that maximize quality of life.
To raise awareness of TUBB3 variants through research and advocacy, and to connect and support individuals and families affected by TUBB3 variants.
Find other families affected by TUBB3, learn about special events, help spread awareness, and get support
Read studies and publications, see the ongoing research, and learn what doctors and researchers know about TUBB3
Send a message to a member of the TUBB3 Foundation board with any questions you have or if you need help
