Four Children. One Chance. Your Help.

Together, we can return groundbreaking research into a real therapy for children affected by the ultra-rare PGAP1 gene defect

About IFUSE

IFUSE is a non-profit initiative dedicated to advancing research on ultra-rare genetic diseases. We support international research projects, foster global collaboration, and raise awareness for conditions that are often overlooked in medical research.

Our mission is simple: to give families affected by ultra-rare diseases hope and a real chance for treatment.

why this matters

Emil (7), Jonathan (9), Benjamin (11), and Carlo (11) are four joyful boys from Frankfurt, Hamburg, and Mecklenburg-Vorpommern. What they share is an extremely rare genetic disorder called PGAP1.

They cannot speak, walking is difficult, and many everyday tasks require support. And yet they laugh, play, cuddle — and their families fight for them every single day.

Worldwide, only 21 children are known to be affected by this gene defect. Geneticists describe it as a “freak of nature,” with odds of approximately 1 in 21 million.

PGAP1 Research Project

Researchers at the Children’s Medical Research Institute (CMRI) in Sydney have discovered a small molecule that can stimulate the defective PGAP1 gene.

Laboratory tests are promising.

The next step is testing the molecule on stem cells from affected children.

The research collaboration with UMG Göttingen is ready.

Only the funding is missing.

Ultra-rare diseases are usually not funded by pharmaceutical companies or public programs. Without private donations, this research cannot continue.

100% of all donations go directly into the research project at CMRI in Sydney and the collaboration with UMG Göttingen.

Yes. Many small donations make the critical next research steps possible.

Yes. The molecule has been identified and tested in the lab. The next step requires funding.

Contact Us

If you have questions about the project, donations, or partnerships, feel free to contact us.