PUS3 SYNDROME
Breaking Barriers Building Hopes
Understanding PUS3 Gene Mutation
Body as a Factory :
Your body works like a factory following genetic instructions to make proteins.
Faulty Instructions :
When the PUS3 has a pathogenic mutation, it’s like having broken instructions. Cells cannot produce proteins properly.
Impact on Children :
A single faulty instruction can cause symptoms ranging from serious to devastating, including severe developmental delays, hypotonia, intellectual disability, seizures, and lifelong disability.
Beyond the diagnosis
More than a medical label
Our children are more than a diagnosis. They are vibrant, loving individuals with unique personalities and boundless potential.
Race against time
Every day counts
Early treatment offers the best chance for success. Delays can lead to increasingly severe developmental impacts.
BRAVE HEARTS
Life With PUS3: The Real Story
Our Strategic Partnership
Partnered with the Gene2Cure Foundation, we are executing a proven AAV gene-therapy strategy that offers the most direct path to correcting the PUS3 genetic error.
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Hope is not a strategy - a plan is
Success requires action, not just hope. We are committed to delivering real solutions.
Why
Ultra-rare diseases face a difficult reality — there are too few patients for treatment development to become a priority. No family can carry this burden alone. Together, we can create a chance for therapy.
What's the Plan
Science has proven gene therapies can cure rare diseases. After comprehensive evaluation, we've invested in AAV Gene Augmentation therapy - the most advanced approach to target PUS3 at its genetic root.
How Can You Help
We've committed everything to launch genetic therapy development, with preclinical work underway. However, we need significant financial backing to complete development and validate this life-changing treatment for everyone affected by PUS3 disorder.
ASSISTANCE
Scientific Council
Leszek Lisowski
PhD, MBA
Unit Head, Children Medical Research Institute;
President, Gene2Cure Foundation
Spela Mirosevic
Gene2Cure
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NEWS
