Sebastien Beauzile has had sickle cell disease his entire life. He was first brought to Cohen Children’s Medical Center on Long Island when he was two months old, and he spent the next 21 years cycling through severe chest pain, back pain, joint pain and skin ulcers, along with the constant risk of organ damage and stroke that the disease carries. He described sickle cell as a blockade over his life. That blockade is now gone. Beauzile has become the first person in New York State to be cured of sickle cell anemia, using a one-time gene therapy called Lyfgenia that his doctors at Northwell Health administered in December. The treatment uses the patient’s own bone marrow stem cells, which are collected, genetically modified in a laboratory to carry a healthy version of the hemoglobin gene, and then infused back into the body. Because it is the patient’s own cells being returned, there is no risk of rejection and no need for ongoing immune-suppressing medication.
Sickle cell disease, which has been known to medicine since 1910, causes red blood cells to take on a rigid, crescent shape that blocks blood vessels and cuts off oxygen to tissues and organs. It affects approximately 100,000 Americans, with about 90 percent of those patients being Black. For most of the past century, treatment meant managing symptoms rather than eliminating them. The gene therapy that cured Beauzile works by inserting a functional hemoglobin gene into his stem cells, allowing his body to produce normal, flexible red blood cells for the first time. Clinical trial data showed the therapy resolved symptoms completely in 88 percent of participants. Beauzile called the treatment day his new birthday. He told doctors the experience was like jumping over a wall that had blocked him his entire life, and that he now feels unstoppable.
Source: https://techfixated.com/sickle-cell-disease-has-just-been-cured-for-the-first-time-in-new-york/
