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Sickle cell disease

Published on January 31, 2024   50 min

A selection of talks on Clinical Practice

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0:00
Thank you for attending the talk. I'm Martin Steinberg, Professor of Medicine at the Boston University Chobanian & Avedisian School of Medicine in Boston and Attending Physician at Boston Medical Center. I am here to talk this morning about sickle cell disease.
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This slide shows my disclosures.
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I'm going to begin with a timeline of discovery, both of DNA and of sickle cell anemia because these two separate timelines are closely intertwined. The DNA was discovered back in the late 1800s. It was in the 1940s that Avery, MacLeod, and McCarty found that DNA was the subject of hereditary transmission of genetic traits. Watson and Crick solved the structure of DNA in the 1950s. Cohen and Boyer introduced the era of recombinant DNA. The ability to sequence DNA came shortly afterward by Sanger, Maxam, and Gilbert. Mullis and associates first developed a polymerase chain reaction that allowed easy manipulation of DNA. The human genome was sequenced in the early 2000s, and in the mid-2000s, the CRISPR/Cas system of bacteria was found to be a simple way of making precise changes in DNA. In parallel, the sickle cell disease was discovered in the 1910s by Herrick. Pauling first found abnormal hemoglobin in individuals with sickle cell disease. Janet Watson, a pediatrician, noted that fetal hemoglobin had a beneficial effect on individuals with sickle cell disease. Neel and Beet showed how sickle cell disease was inherited. Vernon Ingram found the mutation that distinguished sickle hemoglobin from normal hemoglobin. Variation in the human genome in the form of restriction fragment length polymorphisms that allowed the distinction of different chromosomal structures. Hydroxyurea, a treatment for sickle cell disease, was approved by the USFDA in the mid-1990s. Now, at present, we're on the cusp of cell-based therapeutics by editing the genome or adding genes, which is possible, will result in a cure for sickle cell disease. We also have haploidentical transplantation, different therapeutic means of inducing fetal hemoglobin production, and combination drug therapy that we hope leads to the improvement of the lives of many patients.

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