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Our discovery of mutations in the CIDEB gene that protect against liver disease is published in @NEJM, leading to possible #RNAi therapeutics for NASH by Regeneron & Alnylam. 🚨
nejm.org/doi/full/10.10…
A short summary of the key findings 🧬🧵↓
nejm.org/doi/full/10.10…
A short summary of the key findings 🧬🧵↓
Liver disease is a big unsolved problem:
1⃣ 1 in 3 adults globally have fatty liver, often due to #obesity.
2⃣ Liver inflammation due to fat (NASH) is becoming #1 cause of liver transplant.
3⃣No approved therapies.
Where can we find possible NASH targets?
➡️In our DNA!
1⃣ 1 in 3 adults globally have fatty liver, often due to #obesity.
2⃣ Liver inflammation due to fat (NASH) is becoming #1 cause of liver transplant.
3⃣No approved therapies.
Where can we find possible NASH targets?
➡️In our DNA!
Studies of common genetic variants found PNPLA3 (2008 - risk-increasing, rb.gy/rgyped) and HSD17B13 (2018 – protective, rb.gy/mn2rce) variants associated with liver disease that are now potential #RNAi therapeutics currently in development.
