Creating the World’s First CRISPR Medicine, for Sickle Cell Disease скачать в хорошем качестве

Creating the World’s First CRISPR Medicine, for Sickle Cell Disease

People with sickle cell disease — marked by malformed, sickle-shaped red blood cells that can aggregate and block small vessels — experience excruciating pain crises, tissue and organ damage, and shortened life expectancy. Treatment options have been limited. The lab of Stuart H. Orkin at Harvard Medical School, Boston Children’s Hospital, and Dana-Farber Cancer Institute made crucial discoveries that, in the hands of CRISPR Therapeutics and Vertex Pharmaceuticals, became an FDA-approved gene therapy that is changing the story of sickle cell disease for patients across the United States and around the world. In a series of studies beginning with a landmark report in 2008, the lab revealed the potential of editing one gene, BCL11A, with CRISPR/Cas9 technology to restore production of a healthy form of hemoglobin. Among the lab members who led portions of the work were Vijay Sankaran, then an MD-PhD student at HMS, and Daniel Bauer, then an HMS clinical fellow in hematology. 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. David Altshuler, Vertex Pharmaceuticals executive vice president and chief scientific officer, had followed Orkin’s work as an HMS professor of 15 years. On day one at Vertex, he knew that he wanted to work on BCL11A. Nine additional years of effort by the two companies brought Orkin’s and colleagues’ hopes to fruition. CASGEVY, a first-of-its-kind therapy, is now approved for use in patients with sickle cell disease in the United States and multiple countries in Europe and the Middle East. This partnership between fundamental research and industry has already had a monumental impact on sickle cell disease patients around the world. Read the full story for more details: https://hms.harvard.edu/news-events/m... View more episodes of Making Medicine: https://hms.harvard.edu/news-events/m...