The first disease that pops in my head to investigate is cancer. But, I focused on cancer research for journal club and my NSF grant proposal in BCM341. I want to be a pediatrician, so I think I will do some preliminary research to find interesting pediatric diseases. Below is a list of diseases that I would like to consider for my project.

Fragile X Syndrome

This is a genetic disease caused by a mutation in the FMR1 gene on the X chromosome. It also involves a CGG DNA segment that is repeated more than in people without the disease. The number of extra repetitions correlates with the severity of symptoms. The disease itself manifests in children as learning, behavior, appearance, and health abnormalities.

Hutchinson-Gilford Progeria Syndrome

This is also a genetic disease caused by a mutation, but in the lamin A gene. The protein that it codes for holds the center of the cell together, so when it is defective the cells experience rapid aging. What makes this disease interesting to me is there is research looking into farnesyltransferase inhibitors as a potential agent to slow disease progression, which sounds familiar from class. I think the biochemistry of this disease would be interesting to investigate.

Ataxia-Telangiectasia

At the end of the day, I want to be a pediatric oncologist, so it makes sense that I found my way to a disease associated with cancer. You can’t deny how fascinating cancer is with all of its diverse causes and biochemical processes. Ataxia-telangiectasia is an inherited disorder that affects the nervous system, immune system, and other body systems. It causes difficulty in coordinating movements in children. The protein alpha-fetoprotein is present in high levels in the blood, which is characteristic of pregnant women. Individuals with this disease are more susceptible to cancer and are sensitive to radiation exposure. I suspect there will be a lot of interesting research surrounding this disease since it affects so many different systems in different ways.