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A Journey from Blood Cells to Genes and Back

Journal Title: 
Annual Review of Genomics and Human Genetics
Primary Author: 
Luzzatto L
Luzzatto L
Original Publication Date: 
Friday, August 25, 2023
Bone Marrow Disease(s): 

I was attracted to hematology because by combining clinical findings with the use of a microscope and simple laboratory tests, one could often make a diagnosis. I was attracted to genetics when I learned about inherited blood disorders, at a time when we had only hints that somatic mutations were also important. It seemed clear that if we understood not only what genetic changes caused what diseases but also the mechanisms through which those genetic changes contribute to cause disease, we could improve management. Thus, I investigated many aspects of the glucose-6-phosphate dehydrogenase system, including cloning of the gene, and in the study of paroxysmal nocturnal hemoglobinuria (PNH), I found that it is a clonal disorder; subsequently, we were able to explain how a nonmalignant clone can expand, and I was involved in the first trial of PNH treatment by complement inhibition. I was fortunate to do clinical and research hematology in five countries; in all of them, I learned from mentors, from colleagues, and from patients.

Keywords: Darwinian selection; G6PD deficiency; autobiography; hemoglobinopathies; human genetics; paroxysmal nocturnal hemoglobinuria; somatic mutations.