RAIDEN SCIENCE FOUNDATION
Creating more than hope —
giving kids suffering from UBA5 Disorder a fighting chance.
We are overcoming traditional research barriers to advance treatment for UBA5 disorder, a debilitating and ultra-rare genetic disorder.
In doing so, we are pushing forward medical breakthroughs, such as gene therapy, to help children all around the world who are suffering from UBA5 and, ultimately, other rare diseases.
WHAT IS UBA5?
UBA5 Disorder is a neurodegenerative disease
UBA5 itself is a gene that encodes instructions critical for cellular breakdown and function. Mutations in the UBA5 gene result in protein malfunction, leading to life-threatening diseases.
An ultra-rare genetic disease
With only about 40 diagnosed cases worldwide, UBA5 is considered an ultra-rare condition, resulting in limited research within the field of medicine.
Motor Control Issues
These encompass hypotonia (floppiness), spasticity (stiffness), and dystonia (involuntary muscle contraction and twisting movements).
Individuals affected by UBA5 disorder often experience seizures, intellectual disability (global development delays), and brain abnormalities.