Its another day of internship at the public health clinic associated with the University Medical Center. Your first intake of the day is a nervous, young Caucasian couple, Nicholas and Inge Schmidt, who are 25 and 23 respectively. Inge speaks:
"Doctor, we have a bit of a problem. We would like to have another child. Our daughter Greta is already 3 and we planned to have another two after Greta was born. Can you help us?"
According to lab tests done on Inge, she is perfectly healthy and nothing seems to be impeding her fertility. You ask Nicholas a little about himself.
"Well, Doctor, I've always been a thin, small person. As a child I was sick a lot and so I never got into any sports as a kid. I liked football, but I heal from bruises very slowly. One of the things that I have always had is a lot of chest colds- you know, hard to breathe, a lot of coughing and spitting up phlegm. I have one now in fact. You know, it's also a concern of ours that Greta is also sick with a chest cold. We want to deal with the problem of these chest colds that keep coming back before Greta starts school."
Several of the things that Nicholas mentions make you think that he may be suffering from a genetic disorder. First you decide to do some lab tests. Microscopic examination of Nicholas' sputum shows the presence of Pseudomonas aeruginosa. This microbe sounds familiar to you. So you decide to check Online Mendelian Inheritance in Man (OMIM) to try to see what genetic disease Nicholas, and possibly his daughter, are suffering from. OMIM is a database used by medical professionals that lists every genetic disorder currently known.
*Use OMIM to figure out what disease they are suffering from. Go to OMIM
When you are done, build a computer model to help your patients understand their disease better and how they can limit their symptoms.