Stuart Orkin, MD , Investigator at Dana-Farber/Boston Children's Cancer and Blood Disorders Center, David G. Nathan Distinguished Professor, Harvard Medical School and Investigator, Howard Hughes Medical Institute, has been honored with The Breakthrough Prize for his pioneering work discovering the genetic and molecular mechanisms underlying the switch from fetal to adult hemoglobin and validating it as a therapeutic target for sickle-cell disease and beta-thalassemia. Dr. Orkin shares the prize Swee Lay Thein.
The Breakthrough Prize, popularly known as the “Oscars® of Science,” was created to celebrate the wonders of our scientific age. The announcement was made Saturday during the Breakthrough Foundation’s annual gala awards ceremony where high-profile leaders in the science, tech, and business communities alongside actors, filmmakers, writers, singers, athletes, and musicians, along with current and prior Breakthrough Prize laureates gathered in the heart of Hollywood for a celebration of science and scientific achievement.
Dr. Orkin’s discoveries made possible the world’s first FDA-approved therapy using CRISPR/Cas9 — Casgevy. The therapy is intended to treat patients with sickle cell anemia and β thalassemia, debilitating blood disorders affecting millions worldwide. It works by knocking down a gene called BCL11A , a mechanism discovered by Dr. Orkin’s team in 2008 that enables fetal hemoglobin production to restart and represses sickled hemoglobin.
“Receiving the Breakthrough Prize in Life Sciences alongside Dr. Thein is a singular honor that affirms the critical role of basic research in developing transformative therapies for devastating diseases,” said Orkin. “I hope that recognition of our contributions stimulate investment and further research that will bring additional treatments to all patients with sickle cell disease and beta thalassemia, wherever in the world they reside. It has been a privilege to work with many dedicated trainees and colleagues to make the discoveries recognized by the Breakthrough Foundation.”
His many awards and honors include the Warren Alpert Foundation Prize in 1993; Jessie Stevenson Kovalenko Medal from the National Academy of Sciences in 2013; Mechthild Esser Nemmers Prize in Medical Science, Northwestern University in 2018; King Faisal International Prize for Medicine in 2020; Harrington Prize for Innovation in Medicine from the American Society for Clinical Investigation and Harrington Discovery Institute in 2020; Gruber Foundation Prize in Genetics in 2021; the Canada Gairdner International Award in 2022; the Elaine Redding Brinster Prize in Science or Medicine in 2023; The Shaw Prize in Life Science & Medicine in2024;and the Ernest Beutler Lecture and Prize in 2024