I wish it wouldn't require years to be sure it isn't too dangerous (probably too late for me).

This was a major component of my brother's recent death. It looks like he inherited it homozygously (so his symptoms were much more serious), while my other brother and I have heterozygous inheritance.

I remember my decades ago visit to the head of the head of the lipid department at John Hopkin's telling me (after reviewing my history and that of my family) that "there is no cure, except gene therapy if it's ever developed."

Well, it finally appears to be. Yes, it's been demonstrated in other primates, but there to doesn't seem to be any reason it isn't carried over to humans. The shot contains modified genes which migrate to the liver, actually changing ALL the liver cells to resist the abnormal mutation.

A single shot seems likely to cure heart disease in people with a hereditary disorder (many)

It's exciting but I've got some first hand experience at the disappointment in gene therapies mentioned by the article.

My disease is also due to a single gene mutation that affects protein production in the liver. We've had disappointments with viral delivery and some setbacks with RNA silencing. Other methods such as targeted editing with lipid nanoparticles (and others) are now in pre-clinical stages for my disease too.


But yeah, it's encouraging to watch.

Jon

quote:

My disease is also due to a single gene mutation that affects protein production in the liver.

Wishing us both hope in these promising directions, Jon. The great thing with all diseases, especially those based in our genes, is to stay alive long enough for a breakthrough!