RAIDEN SCIENCE FOUNDATION
CREATE 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
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 developmental 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.
OUR RESEARCH STRATEGY
We are adopting a holistic approach to develop effective treatments for UBA5 disorder, placing a primary emphasis on gene therapy as our initial solution. Our operational model mirrors that of a lean startup—swift, efficient, and cross-functional. We are aware that our endeavors serve as foundational stepping stones, carving a path that will ultimately catalyze research and treatments benefiting countless individuals afflicted by rare diseases worldwide.
DISCOVER, DEVELOP, DELIVER
WE’RE GRATEFUL FOR ALL
THE SUPPORT ON OUR JOURNEY
MEET DR. AARON CIECHANOVER
2004 Nobel Prize award winner in Chemistry for the discovery of ubiquitin pathway (of which UBA5 is a part of) and a member of our Scientific Advisory Committee.
"The discovery of the ubiquitin system was driven by sheer curiosity – how the cell degrades its own damaged proteins and those [proteins] that have completed their role.
But as happens frequently, curiosity led to the discovery of numerous diseases caused by aberrations in the [ubiquitin] system, and subsequently to discovery of drugs to combat some of them including cancer. It is now our role to complete the cycle and discover remedies to the still orphan diseases – UBA5 mutations among them."