Normal and sickle-shaped red blood cells.
A genomic revolution is poised to cure sickle cell and other genetic diseases
For as long as he could remember, Razel Colón had known pain. It ripped down his neck and back, shot through his legs and traveled on to his feet, often leaving him writhing and incapacitated. He suffered occasional attacks of “acute chest,” in which breathing suddenly becomes difficult. “It felt like an elephant was sitting on my chest, with tight, tight pain,” Colón tells me. Trips to the emergency department and the hospital were commonplace. “If I was lucky,” he says, “I could stay away for a month.”
Colón, from Hoboken, N.J., is just 19, but the sickle cell disease that produced these effects had been a constant, if unwelcome, companion. But he tells his story now from the perspective of one who has gone a year and a half without that pain. He can do things that previously were out of the question: play basketball, lift weights, swim in cold water. His treatment, says his long-time physician Stacey Rifkin-Zenenberg, a pediatric hematologist-oncologist at Hackensack University Medical Center, “changed him from having the disease to being a carrier.”
Colón’s case represents a point on the curve of an emerging technology that may forever alter our approach to treating diseases like sickle cell. That world, the cutting-edge world of innovative genomic therapies, is once again in the midst of explosive change—and designer DNA lies at the heart of the conversation.Continue reading… “How Designer DNA Is Changing Medicine”