A Journey from Blood Cells to Genes and Back.
Annu Rev Genomics Hum Genet
; 24: 1-33, 2023 08 25.
Article
en En
| MEDLINE
| ID: mdl-37217201
ABSTRACT
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Hemoglobinuria Paroxística
Límite:
Humans
Idioma:
En
Revista:
Annu Rev Genomics Hum Genet
Asunto de la revista:
GENETICA
/
GENETICA MEDICA
Año:
2023
Tipo del documento:
Article