David Gould's journey underscores that mutations accumulating in a person's lifetime, known as somatic mutations, could play a crucial role in the onset of diseases that were previously misunderstood.
Gould's symptoms, which included severe anemia and unusual rashes, highlighted the complexity of diagnosis in cases where mutations are not inherited from parents but arise during life.
The NIH initiative demonstrated the importance of identifying less common diseases linked to genetic changes that can emerge spontaneously, rather than solely focusing on hereditary factors.
After receiving a bone-marrow transplant as a targeted treatment, Gould experienced a remarkable recovery, reinforcing the idea that precision medicine can effectively address unique mutational cases.
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