Basically, it is quite simple!
IT IS ABOUT A RARE DISEASE
It could be simple...
Why?
Compared to other diseases such as Alzheimer or cancer - here many factors play a role in the course of the disease - with most rare diseases 'only' one gene is defect.
If this one gene could be replaced or repaired, the disease would be fixed at its root.
If one were also able to detect these genetic defects at an early stage, one could react at the earliest possible time.
Of course, there will still be major challenges. Not every cell in the body is easily accessible. And the use of gene editing processes ("gene scissors") must also be tested very carefully in many respects.
This is only one aspect to consider; regardless of the research and other challenges.
This means that there is still a long way to go before such diseases can be deciphered and cured.
But every path begins with a first step. Because do nothing to anyone solution will lead.
But we're not that far yet
ALSTROM
An incurable genetic defect
The disease - Alström Syndrome - is a so-called "rare disease".
It is a genetic defect that is extremely difficult to diagnose due to its rarity (1: 1,000,000) and lack of awareness. For this reason, there is so far little experience with typical disease courses. There is no early detection.
According to the current state of knowledge, Alström cannot be cured.
