Five years ago I wrote for the GSA weblog, Read/write access to your genomes? Using the past to jump to the future. The basic idea is that whole-genome analysis will start to become “normal” in the 2010s, while “writing” to the genome (through CRISPR) will only start to hit the mainstream in the 2020s.
For humans, where it is going to start and become ubiquitous over time is in Mendelian diseases. Basically, those diseases characterized by a large effect mutation that genetic engineering can target. If you have a genetics education, you know that sickle cell anemia is one of those diseases. Often, it is a classic example of heterozygote advantage. Those with one copy of the mutation are more resistant to malaria, while those with two copies exhibit disease.
Last year a young woman received treatment to “fix” the mutation. NPR has been following her, and the results are good, 1st Patients To Get CRISPR Gene-Editing Treatment Continue To Thrive:
Gray and the two other sickle cell patients haven’t had any complications from their disease since getting the treatment, including any pain attacks or hospitalizations. Gray has also been able to wean off the powerful pain medications she’d needed most of her life.
Prior to the treatment, Gray experienced an average of seven such episodes every year. Similarly, the beta thalassemia patients haven’t needed the regular blood transfusions that had been required to keep them alive.
“It is a big deal because we we able to prove that we can edit human cells and we can infuse them safely into patients and it totally changed their life,” says Dr. Haydar Frangoul at the Sarah Cannon Research Institute in Nashville. Frangoul is Gray’s doctor and is helping run the study.