A Disease May Be Rare
But Hope Should Not Be
Thank you for joining us in our fight!
What is TUBB4A?
TUBB4A is a gene responsible for encoding a protein called tubulin beta-4A, which plays a crucial role in the structure and function of microtubules, essential components of cell architecture.
Global Impact of TUBB4A
TUBB4A mutations have a global impact on individuals and families, contributing to various neurological disorders such as dystonia and hypomyelination. These mutations can result in significant challenges for affected individuals, including degenerative motor impairments and developmental delays.
Support Is Here
TUBB4A mutations pose diagnostic and therapeutic challenges for healthcare providers, highlighting the need for further research to understand their mechanisms and develop effective treatments. We are committed to supporting this crucial research effort and initiating proactive steps to find a cure for all TUBB4A-related disorders.
How is TUBB4A diagnosed?
Diagnosing TUBB4A mutations involves a combination of clinical assessment, neuroimaging studies, and genetic testing to confirm the presence of mutations in the TUBB4A gene and establish a definitive diagnosis of TUBB4A-related leukodystrophy or associated disorders.
Our Goals
To support families and patients with TUBB4A by raising awareness, providing education and advocating for individuals and families affected by TUBB4A-related disorders.
To make waves in the scientific and medical community by actively funding research to find a cure, fostering collaboration within the scientific and nonprofit communities, creating a comprehensive database for a natural history study, and participating in studies aimed at discovering therapeutic interventions that will improve the lives of our TUBB4A kiddos.
