What do we do?
We close the gap between research and treatment of ultra rare 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 ultra rare genetic diseases.
"We all have spontaneous mutations on our genes. Most of them go unnoticed and have no influence on our development. In so called "ultra rare" cases however, they are the cause of serious diseases such as Valeria's KCNT1 mutation. But if all these ultra rare mutations with severe consequences are added together, millions of people worldwide are affected. The root cause of a mutation is the same for all. Simply put, a typo on the gene." Alexandra Schenkel, mother of Valeria and Board member of the Valeria Association.
So if not every single mutation was considered on its own, but rather we consicer its origin, the mutated gene, all these diseases together would no longer be "ultra rare". The term "ultra rare" is the reason the pharmaceutical industry is not interested. However, it is erroneous and limits progress. We therefore need a new approach, which requires thinking beyond what already exists - in terms of the treatments for these diseases and in terms of regulatory requirements." Mario Schenkel, father of Valeria and Board Member of the Valeria Association.
What is a KCNT1 gene mutation?
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.
Why does the Valeria Association exist?
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 occur daily and Valeria suffers every day. Valeria's parents, Alexandra and Mario Schenkel, did not put their head in the sand and fought for their daughter. Together with Prof. Dr. Len Kaczmarek from the Yale School of Medicine and neurogeneticsts at Boston Children's Hospital, they have set up a program that corrects the new mutation on the KCNT1 gene and stop its fatal effects. This allows Valeria and other children with the same disease to live a normal life. Alexandra and Mario Schenkel learned a lot about gene mutations 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?