If not an outright cure, a new discovery could turn Sickle Cell Anemia from a deadly and painful chronic disease to a curable, or at least manageable disease. The discovery comes from Swee Lay Thein and Stuart Orkin.
How scientists made the discoveries behind a game-changing gene therapy for sickle cell disease and won a $3-million Breakthrough Prize– www.scientificamerican.com
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EXCERPT:
On April 18 a Breakthrough Prize in Life Sciences—one of the $3-million Breakthrough Prizes, sometimes referred to as the “Oscars of science”—was awarded to Swee Lay Thein and Stuart Orkin, who led efforts to identify the BCL11A gene and to show that shutting it off could restore healthy hemoglobin production, setting the stage for treating these devastating blood diseases.
Scientific American spoke separately with Orkin, a professor of pediatrics at Harvard Medical School and an investigator at the Dana-Farber Cancer Institute and Boston Children’s Hospital, and Thein, a senior investigator at the National Institutes of Health about what happened in the work that led to their prize and how these treatments can be made more accessible to the people who stand to benefit the most.
[An edited transcript of the interviews follows.]
How did you come to study sickle cell disease? And did you realize early on that fetal hemoglobin would be a good therapy target?
ORKIN: I started out in the 1980s working on the genetics of [beta-thalassemia]—that is, what mutations lead to the deficiency of hemoglobin in that disorder. The hope was that we would learn how a red [blood] cell is made and how genes are regulated. We didn’t really learn that, but we learned a lot about mutations and disease. Even prior to that, we knew the deficiency of beta-globin [a component of the adult hemoglobin protein] in [beta-thalassemia] and the [effects of a] mutation in sickle cell disease can be alleviated by expressing more fetal hemoglobin.
We knew that, from family studies in some very rare individuals who had a lot of fetal hemoglobin, if you raise the level of fetal hemoglobin high enough, you can basically ameliorate those disorders—plus, fetal hemoglobin is perfectly fine to substitute for adult hemoglobin [for carrying oxygen]. As early as genes were cloned back in the early 1980s, one of the goals was to see if we could reverse the switch and make fetal hemoglobin expressed at a high level in adult cells as a treatment [for beta-thalassemia]. The problem was, we didn’t understand the process at all—that’s what’s consumed the past 15 to 20 years or research—or how to reverse it.
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