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Posts Tagged ‘founder effect’
Jews and Genetic Disorders

Credit: ‘EM Unit, UCL Medical School, Royal Free Campus’. Wellcome Images
Introduction
Victoria Gray, a Black American woman now in her mid-thirties, was just three months old when she suffered her first painful bout with sickle cell disease (SCD), a debilitating genetic blood disorder. SCD is caused by a mutation of the hemoglobin-beta (HBB) gene in chromosome 11 that alters the shape of normally flexible, round red blood cells into rigid, crescent shaped cells. When it does, the flow of red blood cells that usually deliver oxygen to bodily tissues is restricted resulting in limited oxygen delivery to tissues and associated severe pain. Until recently, treatment consisted primarily of strong pain relief medication and, also, frequent blood transfusions. SCD affects about 100,000 people in the United States, more than 90% of whom are African-American or non-Hispanic Black, and millions more worldwide.
In 2019, Ms. Gray became the first patient with any form of genetic disease to be treated by gene-editing technology known as CRISPR which modified blood cells taken from her bone marrow for subsequent infusion back into her body. Two years later, she was not only pain free, but doing well enough to no longer be part of the landmark study for which she volunteered, although she will continue to be followed for fifteen more years in order to check the long-term safety and efficacy of her treatment.
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