Repairing a Point Mutation

Olga AmosovaMy friend Olga Amosova worked as a molecular biologist at Princeton University. Last time I visited her, we talked about her research.

She told me that she and her group designed a repair for a DNA mutation that is highly localized. “What’s the point,” I asked her, “of repairing DNA mutation in one cell?”

I was amazed to learn that not only is there a practical use to her research, but that there is something urgent that I myself must do.

There are many diseases that are caused by localized (so called “point”) mutations. The most famous one is Sickle-cell disease. In Sickle-cell disease, defective hemoglobin causes erythrocytes to adopt a sickle shape that makes it difficult to pass through blood vessels. It is a very painful and debilitating disease. However, it turns out that the results of the research of Olga and her group could make the lives of people with such mutations much easier.

Stem cells have two amazing abilities. They grow fast and they can be turned into any type of cells in the human body. If the mutation is repaired in just one stem-cell, it can be selected and turned into a blood progenitor cell. These progenitor cells produce erythrocytes that actually transport oxygen. If these repaired cells are added to the patient’s blood, they would produce good hemoglobin for half a year. This would improve the patient’s quality of life tremendously.

So what do the rest of us learn from Olga’s research? That we must save all left-over stem-cells that are produced in childbirth, like the umbilical cord and the placenta. It’s not only Sickle-cell, but many other diseases that could benefit from using stem-cells. Research is moving so fast that these frozen stem-cells might become relevant in surprising ways — not only for the child, but also for relatives of the child — like you yourself!

So what’s the urgent thing I must do? My son recently got married, so I must finish this post and send it to my son in case they get pregnant.



  1. misha:

    “My son recently got married, so I must finish this post and send it to my son in case they get pregnant.” They? That’s the funniest piece of political correctness I have seen in a long time.

  2. Tanya Khovanova’s Math Blog » Blog Archive » Self-Mutilating DNA:

    […] already wrote about the research of my friend Olga Amosova who studied the sickle-cell anemia mutation. She and her colleagues […]