We had a really great seminar today. The speaker was the same medical geneticist who gave our seminar two weeks ago. But today what he did was to give us the clinical information from a real patient that he had, and he went through it all with us step by step to show us how he came up with the diagnosis. The family had two children who were mentally retarded and had seizures and all kinds of other problems. They had been to several other doctors, and no one could figure out what was wrong with their children. It turns out that this was a disease that had not previously been described in the literature, and it was a problem with serine synthesis. After the doctor figured that out, he tried giving the children serine, and that helped with their seizure symptoms. But unfortunately, it was too late to reverse the retardation for these children. However, the child of another family who also had this disease was treated while still in the uterus by having the mother take large doses of serine. That child was born seeming normal; he has to take serine every day for the rest of his life, but so far it seems to still be working.
The speaker said it took him a few years to figure out what the problem was. I thought it was really amazing. I asked him afterward how one becomes a medical geneticist (he's an MD, not a PhD), and he said that many people start out as pediatricians and then go into medical genetics. He actually started out as a pathologist. So here's yet another pull for me to go into pathology.