Gene-Edited ‘Supercells’ Make Progress In Fight Against Sickle Cell Disease
November 19, 20197:01 AM ET
Doctors are reporting the first evidence that genetically edited cells could offer a safe way to treat sickle cell disease, a devastating, incurable disorder that afflicts millions of people around the world.
Billions of cells that were genetically modified with the powerful gene-editing technique called CRISPR have started working, as doctors had hoped, inside the body of the first sickle cell patient to receive the experimental treatment, according to highly anticipated data released Tuesday.
The edited cells are producing a crucial protein at levels that have already exceeded what doctors thought would be needed to alleviate the excruciating, life-threatening complications of the genetic blood disorder, the early data show. Moreover, the cells appear to have already started to spare the patient from the agonizing attacks of pain that are the hallmark of the disorder.
“We are very, very excited,” says Dr. Haydar Frangoul of the Sarah Cannon Research Institute in Nashville, Tenn., who is treating the patient. “This preliminary data shows for the first time that gene editing has actually helped a patient with sickle cell disease. This is definitely a huge deal.”
Frangoul and other researchers caution, however, that the results involve just one patient who was only recently treated. It is far too soon to answer the most crucial questions: Will the modified-cell treatment continue to improve the patient’s health? Will the treatment keep working? Will it help her live longer? Is it safe in the long term?
“We are hoping it is” a success, Frangoul says. But “it is still too early to celebrate.”
NPR has exclusive access to chronicle the experience of Frangoul’s patient, Victoria Gray of Forest, Miss., the first person with a genetic disease to be treated with CRISPR in the United States.
Sickle cell anemia is one of the first genetic diseases to be well understood. Linus Pauling et al figured it out in 1949. It’s a recent mutation that probably arose around the time West Africans started agriculture a few thousand years ago. Chopping down forests exposed farmers to the anopheles mosquito that likes to breed in sunny puddles. At some point, the malaria carried by the mosquito became able to afflict humans, with devastating impact.
In response, the sickle cell mutation arose, but, tragically it is nature’s Quick and Dirty Darwinian response: if you inherit one copy your chance of dying of falciparum malaria declines, but if you inherit two copies, you will likely die painfully in early childhood without intensive medical care. Since falciparum malaria is rare in the United States, the mutation serves little purpose here and inflicts much suffering.
But a lot of genetically-driven aspects of human life aren’t well-conceptualized by the lessons of sickle cell. If you aren’t as smart as you think you’d like to be, you probably can’t influence your IQ noticeably by changing one mediocre gene into one great gene. Cognitive skills are just too influenced by thousands of genes.
On the other hand, what if you had one negative mutation? Could that drive down your IQ notably and could it be fixed by this type of technology?