Discover and read the best of Twitter Threads about #ISSCR2020
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How to use #CRISPR gene editing to fight heart disease, the #1 killer worldwide:
A thread 10+ years in the making.
This one starts in 2009 when I was a postdoc in @skathire lab @MassGeneralNews/@broadinstitute studying ❤ risk factors like cholesterol & triglycerides.
(thread)
A thread 10+ years in the making.
This one starts in 2009 when I was a postdoc in @skathire lab @MassGeneralNews/@broadinstitute studying ❤ risk factors like cholesterol & triglycerides.
(thread)
2/
Inspired by work from Boileau/Seidah/Breslow/Horton/Hobbs/Cohen/et al.:
1. Activating PCSK9 mutations = ⬆️LDL cholesterol
2. Inactivating mutations = ⬇️LDL & ⬇️heart disease
3. People with no PCSK9 = ⬇️⬇️LDL & *healthy*!
We asked: are there more PCSK9’s to be discovered?
Inspired by work from Boileau/Seidah/Breslow/Horton/Hobbs/Cohen/et al.:
1. Activating PCSK9 mutations = ⬆️LDL cholesterol
2. Inactivating mutations = ⬇️LDL & ⬇️heart disease
3. People with no PCSK9 = ⬇️⬇️LDL & *healthy*!
We asked: are there more PCSK9’s to be discovered?
3/
We scoured the literature and found that Dr. Gustav Schonfeld @WUSTLendo—an Auschwitz survivor, an immigrant to the US, a foremost expert on lipid metabolism—had identified 4 *healthy* siblings with a “double whammy”:
⬇️⬇️LDL & ⬇️⬇️triglycerides (TG)
nytimes.com/2017/05/24/hea…
We scoured the literature and found that Dr. Gustav Schonfeld @WUSTLendo—an Auschwitz survivor, an immigrant to the US, a foremost expert on lipid metabolism—had identified 4 *healthy* siblings with a “double whammy”:
⬇️⬇️LDL & ⬇️⬇️triglycerides (TG)
nytimes.com/2017/05/24/hea…
