One of the specialists who will attend the conference is dr. Dwi Kemaladewi. Together with an international team of scientists led by dr. Ronald Cohn, President and CEO, Senior Scientist, Paediatrician and Geneticist at SickKids hospital in Toronto she applied a modified version of the CRISPR gene-editing tool in a way that may eventually open up entirely new treatment avenues for patients with Congenital Muscular Dystrophy type 1A (MDC1A) and other inherited diseases. The findings are published in the July 24 edition of the prestigious scientific journal Nature.
This paper is the first to conceptualize and test a new CRISPR approach – called CRISPR transcriptional activation (or CRISPR-a) – using a potentially clinically relevant treatment strategy in a mouse model of the disease. In this study, the tool is used to change how genes are expressed without having to break genetic sequences. It also establishes a first-of-its-kind framework for the use of CRISPR-a to rescue disease symptoms. This technique is deemed particularly promising due to the fact that it could be applied not just to MDC1A, but other muscular dystrophies as well.
Data from this study showed successful prevention of symptom progression in a mouse model of MDC1A in vivo right after birth and reversal of the disease phenotype at three weeks of age, when paralysis was already apparent. At the end of the treatment regimen, there was evident absence of paralysis and marked functional improvements in movement in the mice. These findings could hold promise for CRISPR-a as a possible strategy that could one day help treat patients with MDC1A.
We aim to present more about this promising research during the conference in Maastricht. You can already read about it here.