Our association wants to activate and support medical-scientifical research on mutation in the RBCK1 gene and Polyglucosan body myopathy type 1, to develop an effective cure that can eliminate or minimize the damages caused by that alteration.
Our association wants to activate and support medical-scientifical research on mutation in the RBCK1 gene and Polyglucosan body myopathy type 1, to develop an effective cure that can eliminate or minimize the damages caused by that alteration.
My Perfect Mistake Association has the goal to confirm and further advance targeted scientific research on Polyglucosan body myopathy type 1. The research will try to find an effective cure and give hope to children and teenager that suffer from this disease.
Thanks to the donations collected, it will be possible to fund an additional program that will include two distinct lines of investigation: verifying whether currently available drugs can stop the accumulation of polyglucosan in muscle tissue; and using gene-editing strategies to rewrite the DNA of the stem cells obtained during the first year of research.
My Perfect Mistake Association has recently completed the first year of research. The data obtained so far are promising, but this is only the beginning of the journey.
Understanding the mutation and related developments may be the key to cure children affected by Polyglucosan body myopathy type 1.
