Some people are born with a faulty gene that protects them from disease. Drug companies find those people, figure out what the broken gene does, and build a drug that copies it. It is the most reliable way to invent a medicine, because the experiment already ran in humans for a lifetime.
1. PCSK9. In 2006, researchers found that people born with this gene disabled had 88% less coronary heart disease. That discovery led to the injectable cholesterol drugs Repatha and Praluent, and three weeks ago, the first PCSK9 pill.
2. ANGPTL3. Families in Italy with this gene broken had very low cholesterol and clean arteries. The copy is Evkeeza, approved in 2021 for severe inherited high cholesterol.
3. APOC3. Broken copies mean very low triglycerides and less heart disease. The copy, Tryngolza, was approved in December 2024.
4. CCR5. About 1% of Europeans carry two broken copies and are essentially resistant to HIV, because the virus uses that protein as its door into cells. The copy is the drug maraviroc, and the only people ever cured of HIV got transplants from those donors.
5. Lp(a). People born with low levels of this particle get less heart disease. Five drugs copying that state are in late trials; the first big readout is due any week now.
6. FNIP1. Found on Tuesday, in a million genomes. One broken copy, 60% lower odds of heart disease, diabetes, and fatty liver. The hunt for the copy has just started, with a catch: the pathway it works through, when fully broken, causes a kidney cancer.
One gene taught us to lower cholesterol. Another taught us to block HIV. The next lesson was published this week.
@luo_yuehan Hmm… so we get angry when people want to come and stay legally, and get offended and surprised if someone wants to come legally and leave.. 🤔