Dr. Stuart Orkin began his research on blood cell formation 45 years ago at Harvard Medical School when gene cloning was a new and exciting field. He focused on studying the hemoglobin gene, which is mutated in individuals with sickle cell anemia and beta thalassemia. He hoped that understanding these diseases would pave the way for genetic-based therapies in the future.
Fast forward to today, and Orkin’s research has contributed to a groundbreaking gene therapy using CRISPR to treat sickle cell disease. This therapy involves editing a person’s blood cells in a lab to produce healthy fetal hemoglobin, potentially curing the disease and eliminating the need for painful episodes and frequent blood transfusions. However, the therapy is costly and invasive, making it inaccessible to many who suffer from sickle cell disease worldwide.
Orkin is now focused on finding a way to trigger the production of fetal hemoglobin with a pill, making treatment more accessible and less invasive. He remains committed to finding solutions that can help improve the lives of the millions of people affected by sickle cell disease globally. His work continues to push the boundaries of what is possible in treating genetic diseases and bringing hope to those in need.