In late June 2020, Voskobiynyk et al shared their recent manuscript on bioRxiv (pre-print before peer-review) detailing a novel mouse model of Dravet syndrome that carries the same mutation in a non-coding region as a patient diagnosed with Dravet syndrome. “Non-coding” means that the mutation is not located in an area of the DNA that […]
Stoke Therapeutics published a paper in Nature Communications detailing the mechanism of action for their new TANGO (targeted augmentation of nuclear gene output) therapy that utilizes ASO (antisense oligonucleotide) technology. While the applications of this technology have been discussed in presentations and meetings, this is the first publication detailing how it was developed. Cells use
I often reflect on the amount of time spent traveling to and from the numerous doctor and therapy appointments with my son over the years. Negotiating my work schedule, coordinating school and therapy schedules, packing medical equipment and medicines, loading my son and his wheelchair into the car, making the sometimes-long drives to the clinic,
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