TUBB3 Variant Awareness Day Date in the current year: March 16, 2025

The TUBB3 gene encodes for tubulin beta-3 chain, a protein that helps form microtubules, which are structural components within cells. Microtubules act like tiny highways that help transport materials and maintain cell shape. TUBB3 is particularly important in nerve cells (neurons), where it helps them grow, move, and function.

Mutations in the TUBB3 gene can cause an extremely rare genetic disorder called TUBB3-related tubulinopathy. These mutations can be inherited or de novo, meaning they occur spontaneously for the first time. TUBB3-related tubulinopathy can have different symptoms, which can vary even among individuals with the same TUBB3 variant, and range in severity.

The most common symptoms associated with mutations in the TUBB3 gene include eye movement disorders, such as congenital fibrosis of the extraocular muscles (CFEOM); low muscle tone and weakness, poor balance, numbness in limbs, limited motor skills; facial weakness; mirror movements, tics or involuntary movements; skeletal abnormalities; developmental delays; intellectual disability; autism spectrum disorder; cyclic vomiting syndrome; seizures or epilepsy; hearing loss; malformations of cortical development.

TUBB3-related disorders are difficult to diagnose because they are extremely rare and because symptoms can vary greatly from one individual to another. Because of this, TUBB3 is severely under-researched and has no cure, treatment, or event standard of care. People with TUBB3 variants can go undiagnosed or misdiagnosed for years; they often work with several different specialists to treat individual symptoms, and these specialists rarely communicate with each other, so no one sees the whole picture.

Some of the individual symptoms can be treated with medications, therapies (physical, occupational, etc.), or surgery. The prognosis depends largely on the symptoms and their severity; some people with TUBB3 variants become independent as they grow up, while others will need lifelong assistance with daily tasks.

TUBB3 Variant Awareness Day is celebrated on March 16 (3/16) because the TUBB3 gene is located on the 16th chromosome. It was created to raise awareness of TUBB3-related disorders among both medical professionals and the general public. The primary goal of the observance is to advocate for research into this ultra-rare disorder and to provide support to individuals and families affected by it.

You can get involved with TUBB3 Variant Awareness Day by learning more about this rare disorder, sharing the facts you’ve learned on social media using the hashtag #TUBB3, and donating to the TUBB3 Foundation or purchasing its official merchandise to support research into TUBB3 variants. If your family is affected by a TUBB3 variant-related disorder, consider sharing your story to help raise awareness and spread hope – of course, only if you’re comfortable doing so.