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. These conditions affect only a handful of families worldwide and are often overlooked in traditional research funding structures.
Because patient numbers are so small, pharmaceutical companies rarely invest in developing therapies. As a result, families are left waiting, often without realistic treatment options.
We believe that rarity must never mean invisibility.
IFUSE supports international research collaborations, helps finance early-stage laboratory work, and works closely with scientific partners to move promising discoveries toward real therapies. Our goal is simple but urgent: to give affected children not just hope, but a tangible chance at treatment.
Our mission is simple: to give families affected by ultra-rare diseases hope and a real chance for treatment.
Make an Immediate Impact
Whether it’s €10, €50, €100, or €5,000 – every contribution brings us closer to making a therapy possible for our children. Together, we can make it happen!
- Private donors enable important steps in research with small and mid-sized donations.
- Companies and major sponsors can play a decisive role in fully funding the project.
We’ve already come a long way – but we can’t move forward without you.
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.
Why is private funding needed?
Ultra-rare diseases are usually not funded by pharmaceutical companies or public programs. Without private donations, this research cannot continue.
Where does my donation go?
100% of all donations go directly into the research project at CMRI in Sydney and the collaboration with UMG Göttingen.
Does a small donation really help?
Yes. Many small donations make the critical next research steps possible.
Is this research already underway?
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.