We close the gap between research and treatment of orphan diseases through unprecedented individualized therapies by supporting research projects and educating the public.
Our collaborations aim to promote and accelerate the adoption of novel therapies for orphan genetic diseases.

Spontaneous mutations occur in everyone's genes, with most going unnoticed and having no impact on development. In cases classified as "ultra rare"* however, such mutations can lead to severe diseases, as seen in Valeria’s KCNT1 mutation. When all these ultra rare mutations with serious consequences are considered collectively, millions of people worldwide are affected. Despite the diversity of these conditions, their root cause remains the same—a simple error in the genetic code.

Rather than examining each mutation in isolation, a broader perspective that focuses on their shared origin, the mutated gene, would reveal that these diseases are not as rare as they seem. The designation "ultra rare" discourages interest from the pharmaceutical industry, yet it is misleading and ultimately hinders progress. A new approach is needed, one that extends beyond existing frameworks—both in the development of treatments and in the regulatory standards that govern them.

*We shouldn't talk about "ultra rare" diseases but about orphan diseases. For decades the pharmaceutical industry, politics and thus the social security systems have paid far too little attention to the treatment of these diseases, therefore we call them orphan.

Many people have never heard of a KCNT1 gene mutation and its fatal consequences for a young life. Scientists believe that there is great potential to treat these and other spontaneous mutations on genes with life-threatening consequences and thus drastically change the lives of those affected.
Why do we have to take care of this? The development of drugs for rare diseases has so far been of too little interest to the pharmaceutical industry and seems to involve too many obstacles. The number of patients is too small and the "one size fits all" approach to drug development does not work here.

Valeria Schenkel – The Little Girl Who Moved the World
Born with a devastating de novo mutation on the KCNT1 gene, Valeria faced daily seizures and enormous challenges. But her life sparked something extraordinary: together with researchers from Harvard and Yale, her family developed Valeriasen – the first-ever individualized antisense oligonucleotide knockdown (ASO) therapy for a human being. Valeria received it in 2020; her seizures dropped dramatically. Though she passed away in 2021, her legacy lives on. She proved that ultra-rare diseases can be treated — and that one child’s courage can move science. Today, the Valeria Foundation continues her mission to bring hope and therapies to other children. Learn more about our mission