When Vijay Sankaran was an MD-PhD student at Harvard Medical School, a patient helped inspire him to study the genetics of sickle cell disease alongside his mentor, Stuart H. Orkin, in a laboratory at Boston Children’s Hospital.
Beginning with a landmark report in 2008, the lab published a series of studies that ultimately revealed the potential of editing one gene, BCL11A, with CRISPR/Cas9 technology to restore healthy hemoglobin production and ameliorate sickle cell disease.
But a steep climb remained to transform this discovery into a safe and effective gene therapy for patients. That’s when CRISPR Therapeutics and Vertex Pharmaceuticals stepped in.
In this video, Orkin, the HMS David G. Nathan Distinguished Professor of Pediatrics at Boston Children’s and Dana-Farber Cancer Institute; Sankaran, the HMS Jan Ellen Paradise, MD Professor of Pediatrics at Boston Children’s; and David Altshuler, executive vice president and chief scientific officer at Vertex and senior lecturer on genetics, part-time, at HMS, share the story of how these basic discoveries became a first-of-its-kind FDA-approved therapy, CASGEVY, that promises to have a monumental impact on sickle cell disease patients around the world.