Rare disease families are incredible.
Keep in mind this is still 8 years from “idea for research program” to “drug in preclinical testing”. Biology is slow even if you have exceptional talent & drive.
The drug candidate is an “antisense oligonucleotide”, which is actually a fully general strategy for treating genetic diseases. So far seven such therapies have been approved.
Got a gene that makes a “bad” protein? Do knockout models that lack the gene fully escape the disease? Well, you *could* try gene therapy to get rid of the gene, but you could also just prevent the gene from being expressed.
You make a length of RNA that “mirrors” the mRNA of part of the the bad gene, so it sticks to the bad gene and prevents it from getting translated into a protein.
To my naive eye, this seems “easier” than editing nuclear DNA because you can do it in the cytosol.
It still has most of the other challenges that gene therapy faces: it’s a fragile molecule (probably needs to be injected), you gotta get it into the diseased tissue, you gotta worry about off-target effects, and there’s a whole zoo of gene-editing machinery that could fight you.
Oh, and you gotta get it into the cell, which is really hard. Your body understandably doesn’t want gene-editing molecules changing RNA willy-nilly. Viruses would have a field day with that. There are nucleases in the blood to break down foreign nucleic acids.
