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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.

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).

Cognitive Challenges

Individuals affected by UBA5 disorder often experience seizures, intellectual disability (global development delays), and brain abnormalities.

Growth Impairments
Common growth issues associated with UBA5 disorder include microcephaly (poor head growth) and failure to thrive.
Other Medical Complications
Severe gastrointestinal, respiratory, and visual complications are frequently observed.

UBA5 hits close to home for us

Watch our story and learn about what inspires us to help others like us.

So what can you do to help?


We're grateful for all
the support on our journey.

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