Biologists have some neat tricks for seeing the structures of genes. The details are too much to relate, but the end result is an Xray film in which parts of the gene show up as dark bands. The precise pattern of these bands tells us about the specific forms of a gene that are present in different individuals. While we all (humans, that is) have the same genes, (which make us all humans) we also have very slight differences in the sequences of most genes (which make us all different). The sequence differences are what we can see by looking at the X ray film.
My lab was studying a spcific gene that has some effects on susceptibility to chemical carcinogens. We wanted to see what the gene (called CYP1A1) looked like in different people. We got graduate students, post docs, some technicians, and a couple of members of the night cleaning crew to donate some blook for the analysis. Not exactly a scientific sample, but for a first look, we figured it didnt matter.
One of my post-doctoral fellows (the people who do most of the actual lab work) showed me one of those films and pointed out that there was a mistake in one of the samples. We always saw either one or 2 dark bands at specific places, but for this sample there were also two bands much further down from the correct 2 bands, where nothing was supposed to be.I said “don’t worry about it, at least the others look good”.
At that time, most volunteers for research were Europeans or Asians, and there was far less genetic information available for African Americans. My group and a couple of others had noticed this and had been specifically trying to find genetic risk factors in the African American population. So about a month or so after our first attempt to look at the CYP1A1 stucture we did another experiemn using some DNA from a small group of African Americans from a different project.
Before my post doc showed me the result he said “Sy, do you remember that weird error we found a while back? With the two extra bands?” And then he showed me the Xray photo (see below). Those same mysterious extra 2 bands showed up in 3 of the 8 samples. I then asked the obvious question: “who was the person who had extra 2 band pattern from the earlier experiment? Was that Jerry?”
He smiled and nodded, and I felt a chill. It was one of the members of the night cleaning crew, the only African American whose DNA we had ever tested in this experiment. It appeared that we had discovered a new genetic variant found only in people of African descent.
While this was a minor discovery, it does point out one of the critical aspects of science that is often overlooked, especially by non-scientists. We make progress, when things don’t work or make no sense. When we don’t understand or cant explain a result, that is the time for excitement and discovery. The constant speed of light, whether you are going towards it or away from it, made no sense, and led Einstein to relativity. The crazy results of the light scattering diffraction experiment led to quantum theory (simplified but sort of true). The impossible Malthusian calculation that population sizes tend to increase without limit, led Darwin to the grand theory of biological evolution, and the absurd discoveries of sea shells, certain rocks and lavas, in places where they had no business being, led to plate tectonics.
We are fortunate that there is still a huge amount of stuff that makes no sense, so we know there are plenty of new discoveries to be made. But what do we do, when the discoveries themselves, the answers that we find, make no sense either? I don’t mean that some answers lead to new questions, that happens almost always. I mean when we actually have the answer (quantum theory being a great example) and we know the answer is correct, but, still, outside of mathematics, it makes no sense.
This is my new field of enquiry, and it isn’t exactly a scientific one. I am interested in those questions that science has done as much as it can do, but that still remain open. The origin of life is one, the fine tuning of the physical constants in another, the appearance of teleology in evolution is a third, and human consciousness is my favorite. My hope is get the mental equivalent of seeing that xray film, and feeling that chill of the thrill of discovery once again.