We were supposed to have a patient today, but this was changed yesterday, and no email was sent out. Not all of us checked the portal this morning, so several people showed up to class today dressed in their shirts, ties and white coats. The seminar speaker and topic were both interesting, but I was disappointed that we did not have a patient after all.
Tay-Sachs disease is a genetically inherited lipid storage disorder where there is a deficiency of a certain lysosomal enzyme that breaks down a type of glycolipid called ganglioside GM2. Since they can't be broken down, these lipids tend to get stored in the neurons, resulting in a lethal disease. The patients are usually infants when they first start showing the effects, although adolescent and adult onset forms of the disease are also known but are rarer. The infants wind up regressing developmentally, go blind and deaf, develop seizures, and die as young children by age four. The disease is more common in children with parents who are related to each other, and also in Eastern European Jews.
After our seminar, we had another class meeting. The administration wanted to talk to us about our orientation experiences, and the general consensus was that we spent way too much time listening to people talk to us with powerpoint slides, and there was not enough of a hands-on experience with many of the aspects of the curriculum they were presenting to us. The social activities and the student handbook were more helpful to us. We also wound up spending about half the time discussing what we were supposed to be accomplishing in the lab this summer. It seems that a lot of us initially thought that we were supposed to actually complete a project. Dean Fishleder assured us that this was not the case, and that the main point of the summer project was for us to gain some lab experience, learn new techniques, and get involved in a project and in the workings of the lab in general.