Add articles to your saved list and come back to them any time.Great discoveries – the ones that alter the course of human history – rarely happen with the sudden “Eureka!” moment you see in the movies: a lone inventor’s sudden flash of genius, giving birth to a fully formed breakthrough no one has ever thought of before.
Doudna and Charpentier asked themselves: what if this hardwired immune response could be programmed, not just to identify and disable the genes of a virus, but to edit a genome with gene mutations, the ones responsible for inherited diseases like sickle cell anaemia, Huntington’s disease or muscular dystrophy? Doudna had already received– the less famous, but vitally important cousin of DNA.
, with Samuel H. Sternberg, a biochemist and former member of her lab; four years later, revered US journalist Walter Isaacson wrote a biography of Doudna,Professors Jennifer Doudna and Emmanuelle Charpentier with a model of CRISPR-Cas9. The pair won the Nobel Prize for Chemistry for their contribution to its development.But the biggest accolade of all came via a 3am phone call in the thick of a COVID-19 lockdown.
“If you have a single gene that’s been well-defined as causing a disease, it’s a great potential target for something like CRISPR.”Late last year, the US Food and Drug Administration approved the first gene therapy using CRISPR for the treatment of sickle cell anaemia – the inherited blood disease – in patients 12 years and older. Blood cells, Doudna explains, can be “harvested, edited and then reintroduced to patients”.
Thomas’s lab is using CRISPR technology for its research on the inherited diseases, retinitis pigmentosa and Duchenne muscular dystrophy, which are caused by “mistakes” in specific genes. CRISPR offers the possibility that these diseases can be stopped in their tracks or cured with a single “knock-out” therapy. “CRISPR is both a research tool and a therapeutic tool,” he says.