The Alstroem Initiative website states:
"Rare diseases are actually 'simple' diseases! Compared to other diseases such as.B Alzheimer's disease or cancer - here many factors are relevant in the course of the disease - in most rare diseases 'only' one gene is defective.
If this one gene could be replaced or repaired, the disease would be fixed at its root.
If you were then still able to detect the respective genetic defect at an early stage, you could react at the earliest possible time." The aim of the initiative is to build a 'Center of Excellence' – now the term must not irritate to the effect, that it should only be about a physical facility. Rather, the network idea is in the foreground in order to create the most efficient bundling and networking of knowledge around competences.
This is essential for a rare disease, as there are virtually no resources – and therefore 'going it alone' is not very promising.
Why? This is briefly described below in very simple terms:
WHAT CAN BE DONE IN THE EVENT OF A GENETIC DEFECT? - Edit / neutralise the defective gene.
- Managing / treating the symptoms (in the case of Alstroem: vision, hearing, obesity, diabetes, ...).
To be able to do this, you have to understand the problem - the genetic defect. HOW DO YOU UNDERSTAND THEM? Through research.
WHEN IS RESEARCH BEING CONDUCTED?If – this is completely legitimate – an economic advantage also arises.
HOW IS THIS CREATED?If there is a market.
WHEN IS THERE A MARKET?If there are enough 'buyers' (patients).
HOW DO YOU FIND ENOUGH PATIENTS?There are several ways to do this:
1) Artificial intelligence: Today, there are ways to use artificial intelligence to search millions of data for patterns for rare diseases.
2) Information: Rare diseases are unknown – even to many doctors. Education can help.
Typical symptoms: With Alstroem, visual impairment and obese signs in childhood can already provide an indication (today it takes between 6-8 years to be diagnosed). This means that - in a reality overloaded with information - it must be possible to help the primary care providers (ophthalmologists, paediatricians, ...) to recognise this very easily.
IS IT ENOUGH TO FIND THOSE AFFECTED? No!
WHAT ELSE NEEDS TO HAPPEN?The data of the patients must be accessible for research.
HOW?For example, via a patient registry.
WHO ORGANISES & MANAGES IT?Due to the high demands on data protection & IT security, these are often funded projects of university hospitals. Here, too, (conditionally) economic laws (market ...) apply.
WHAT HAPPENS TO THE DATA?These can provide sufficient starting points for research and have created a 'market' – which is also becoming more attractive for financing studies and the development of therapies.
At Alstroem, about 15 families in Germany are known today. In addition to the lack of organisation (see Advent #7), one must assume that the 'real' number of those affected is significantly higher.
In addition to all the current efforts, the equation described above is ultimately
FIND – RESEARCH – FINANCE
critical to success.
Only in this way will we achieve something sustainable. For Alstroem, however, there are also thousands of other (rare) diseases. Because this principle is the same for everyone. Likewise, the principle that it always needs a boost of this process.
This is exactly one of the investment fields for the donations of the Alstroem Initiative.
What gives us courage?
In addition to the donations and the numerous support, the fact that there is movement in all the topics described above. We have already achieved and initiated a lot!
The further details will of course follow in the context of the updates of the initiative!
# BECAUSE WE CAN
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