School of Medicine research led by associate professor Matthew Porteus, MD ’94, PhD ’94, may advance to human gene-therapy trials to treat sickle cell disease by next year. That, anyway, is the timetable Porteus is hoping for following his team’s promising use of the gene-editing technique known as CRISPR to correct the gene mutation that produces misshapen—sickle-shaped—red blood cells.
At the start of this year, Porteus, a pediatric stem cell biologist, had begun the process that leads to making an application to the Food and Drug Administration for approval of the trials. What his team demonstrated (and published as findings in the journal Nature online) was the ability to repair the mutation in human blood-making stem cells taken from patients with the disease and then inject the repaired cells into young mice. Researchers observed good function over time by the cells, which contained the healthy hemoglobin molecules necessary to avoid the disease.
To prepare for possible trials, Porteus said more laboratory funding for equipment and supplies will be needed. Then the scale of the work will be increased because, as Porteus put it, “We have a great recipe to make an excellent cupcake. Now we need to show that we can use the same recipe to make 200 cupcakes—more flour, more sugar, more vanilla, a bigger oven.”