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 was born on 14 February 2018. A few days after her birth, the little girl suffered her first epileptic seizure. The resulting diagnosis is devastating. Due to a de novo mutation on the KCNT1 gene, Valeria would be denied any cognitive or motor development in her life. Since then several seizures occured daily and Valeria suffered every day. Valeria's parents, Alexandra and Mario Schenkel, did not put their head in the sand and fought for their daughter. Together with Yale School of Medicine and neurogeneticsts from Harvard Medical School (Boston Children's Hospital), they have set up a program that corrects the new mutation on the KCNT1 gene and stop its fatal effects. An Antisense Oligonucleotide named after Valeria - "Valeriasen" was first administered in September 2020. Valeria's seizures declined drastically but unfortunately Valeria lost her fight against her devastating disease in September 2021. Valeria has achieved many things in her short life. She has demonstrated, that drugs for orphan diseases can be developed in record time. Dosed correctly and given to other children with proper precautions and regular monitoring, Valeriasen is a promising drug. Other children are already being treated with it. Valeria has paid a very high price, but in return she has brought science a decisive step forward. Thanks to her fight for a chance in life, many children with a rare disease will be able to live a normal life.

Alexandra and Mario Schenkel learned a lot about genetic diseases, treatment options and were able to establish many important contacts to specialists who are willing to develop therapies for the treatment of ultra rare diseases. They want to use these relationships and this knowledge to help other children as well. However, one can only do this with your financial support. Do YOU also help?

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