Dr. Julie Losman, a physician-scientist at Dana-Farber Cancer Institute and Brigham and Women’s Hospital, told a memorable tale of sickle cell anemia and science at a Harvard rally before Boston’s March for Science. It echoed a common theme, that support for basic science is crucial because it’s not clear where the next great cure will come from. Her speech, lightly edited:
Sickle cell anemia has a very special place in the history of medicine: It was the first human disease that was understood on a molecular level.
Sickle cell anemia is caused by a single mutation in a gene, the hemoglobin gene, that produces a mutant protein with an abnormal structure. This abnormal hemoglobin disrupts the function of red blood cells.
The mutation was discovered in 1949 by a scientist named Linus Pauling. Pauling was not a medical doctor. He was a chemical engineer, a basic scientist. In fact, he won the Nobel Prize in 1954 for helping to invent the field of quantum chemistry, which is the study of how atoms and molecules interact. He was as fundamental and “basic” a scientist as you can be.
And yet it was Pauling’s work on how small molecules bond together that led him to study how very big molecules, like proteins, bond together. This, in turn, led him to try and understand how a mutation in a gene could change the structure of a protein and alter the way that the protein bonds to other proteins.
That is how a chemical engineer who began his career studying protons and electrons made the first discovery of a human disease caused by a specific mutation.
The importance of this discovery to modern medicine cannot be overstated. Linus Pauling’s work laid the foundation for the entire field of medical genetics, which has absolutely revolutionized how we think about human disease.
For many, many, years, and even today, for many, many patients, the treatment for sickle cell anemia is palliative: Avoid things that trigger pain crises, treat pain crises when they happen, and try to…