Mission

Valeria has a mutation on the KCNT1 gene. To be more precise, c.1421 of the gene KCNT1 is showing an A instead of a G in Valeria. The human genome has about 3 billion base pairs A, G, C and T. We all have spontaneous mutations as described above. But most of them go unnoticed and have no influence on our development. Only some of them are the cause of serious diseases, such as those of Valeria.

Neuropaediatricians in children's hospitals have so far diagnosed epilepsy in such cases. Accordingly, anti-epileptic drugs are used to reduce seizures, although the seizures are not the cause, but only a symptom. If all these very rare mutations with severe consequences are added together, millions of people worldwide are affected. The basis of a mutation is the same for all, the gene and its base pairs. So if not every single mutation were considered, but its origin the gene, all these diseases together would no longer be "ultra rare". There are more than 7000 rare diseases. In total, more than 300 million people worldwide are affected by rare diseases. 80% of these rare diseases are genetic, chronic and life-threatening. This is an important reason why we should all be interested. This will enable us to drastically change the lives of those affected.

"Rare diseases" or "ultra rare diseases" are bad terms. They are missleading in many ways. People assume that this will not happen to them and we prioritize these issues below other issues. We therefore want to educate people about how common these diseases are.

Among others, this involves the groundbreaking technology of antisense oligonucleotides (ASO). The big difference to conventional methods is that this revolutionary technology does not aim to combat symptoms, but to eliminate the cause. This means that instead of inhibiting the function of proteins as it is the intention with conventional drugs, antisense oligonucleotides already prevent the formation of the protein by binding to the mRNA.
The more experience and data are gathered with this new technology, the easier and faster these processes will be in the future. The design and production of an oligo does not have to be "reinvented" every time. If the ASO approach is the right one, the processes are the same, regardless of the gene mutation. The standardization of various steps, such as the approval procedure by approval authorities and associated test procedures, should result in shorter and more cost-effective processes.
Just imagine that just a few years ago a WGS - Whole Genum Sequencing - the sequencing of an entire human genome cost one billion USD and took several years. Today, a WGS lasts one week and costs CHF 4,000 (and declining).

Alexandra and Mario Schenkel came across other parents whose children also suffer from an orphan diseases. Parents always try to do the best for their children and usually know exactly what is good for them. Through these contacts, parents whose children had the same disease have already been connected several times. This enables a very specific and valuable exchange of experiences.

It turns out that it takes a lot of time to find all the people who have the necessary know-how and bring them together. Parents of children with orphan diseases know that time is the most precious commodity. The process of bringing together the right people, universities or institutions until the right medicine is available must be faster and easier.

Parents who have to bear such difficult fates are confronted with an unbelievably great burden and an additional almost impossible "Herculean task". They have to raise a lot of money themselves.

With intensive planning over several weeks, incredible commitment and support from family and friends, Alexandra and Mario Schenkel launched a crowdfundig campaign in mid-May 2019. They experienced a huge wave of solidarity and were delighted with a huge donation success. They had only achieved this success thanks to the great support of family and friends.

It cannot be the case that all affected families also have to go down this road. It needs the support of foundations and people who want to be part of something revolutionary. Do YOU also help?

With the support of various specialists, a program was put together for the development of a drug based on the ASO approach.