Friday, September 18, 2015
Doris Duke and Simons Foundations Back Breakthrough Sickle Cell Research
The discovery, published in the journal Nature, creates a path for developing gene editing approaches for treating SCD and other hemoglobin disorders, such as thalassemia.
This stretch of DNA, called an enhancer, controls the molecular switch BCL11A. This switch, in turn, determines whether a red blood cell produces the adult form of hemoglobin — which in SCD is mutated — or a fetal form that is unaffected by and counteracts the effects of the sickle mutation. Other studies indicate that sickle cell patients with elevated levels of fetal hemoglobin have a milder form of the disease.
This study was supported by the National Institute of Diabetes and Digestive and Kidney Diseases (grant numbers F30DK103359, R01DK097768, P30DK049216, K08DK093705,), the National Human Genome Research Institute (grant numbers K99HG008399, K99HG008171), the National Institute of Allergy and Infectious Diseases (grant number R01A1084905), the National Heart, Lung and Blood Institute (grant number R01HL119099, P01HL032262), the National Institute of Mental Health (grant number DP1MH100706), the National Science Foundation, Jane Coffin Childs Memorial Fund for Medical Research, the Doris Duke Charitable Foundation, the Charles H. Hood Foundation, the Keck Foundation, the Klarman Family Foundation, the Leukemia and Lymphoma Society, the Merkin Foundation, the McKnight Foundation, the Damon Runyon Foundation, the Searle Scholars Foundation, the Simons Foundation, the Vallee Foundation and Bob Metcalfe....