By now it is quite well known that I am a carrier of a rare mutation in the Col6A2 gene, which leads to COL6-CMD. The disease has been known to me since childhood, but I only diagnosed myself a few years ago.
In addition to the research projects on cardiovascular diseases, we have established a small but growing research group at the ICG to develop therapies for COL6-CMD.
The aim is to develop therapeutic approaches using CrispR and anti-sense RNAs.
You can learn more about the COL6 research here. link
For the projects we use, among other things, my own skin fibroblasts, which are obtained through a skin biopsy. Yesterday it was that time again, a new skin biopsy was necessary.
The procedure sounds a bit unpleasant, because you actually cut off a small piece of the superficial skin with scissors. But in fact, this procedure does not hurt at all, because the skin is well anesthetized.
Thanks to Max Brosche who performed the procedure so competently.
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