Simulated Patient Project
The purpose of the Case Presentation Genetics project was for an individual or group to diagnose a simulated patient with a genetic disease and research/learn more about the disease, DNA, and genetics.
The first requirement for this project was to diagnose our simulated patient. The second requirement was to research things about the disease such as: what causes the disease, how it is treated, what the mutation does (on a gene, protein, cell, and trait level), etc. Using that information we had to create a PowerPoint presenting all of the necessary information about our patient and the disease. Finally, we had to present our case to a medical doctor.
I had a good experience with this project. I thought it was interesting, engaging, and relatively fun. When I learned that our patient was having seizures, I immediately thought to check the brain. Surprisingly, at least to me, there wasn’t anything wrong with her brain according to the examinations. Because of that, I decided to just look for a disease on the ygyh website that had seizures as a symptom. Again I was surprised when there were no diseases listed with seizures. I then went back to my information about the patient and found she had pigmented spots on her body. I found that a symptom of neurofibromatosis (NF) is pigmented spots. I then did a little more research about NF and found that 40% of people with NF1 have seizures. Using this new information I was able to diagnose our patient with NF1.
My group and I then did more research, learning a lot about NF1, such as what causes it, how it is treated, etc. Then, using what we learned in Biology about genetics, we created a pedigree of our patient’s family and a Punnett square showing the possibilities of her inheritance of the disease. I created the pedigree using power point. Through creating this, I learned that the mutation that caused NF1 was a spontaneous mutation in our patient’s mother. I also learned that the NF1 allele is dominant.
This project helped me develop my inquiry skills. Before the project I thought that inquiry was simply researching/finding information to use in a project. Through this project I have changed my definition of inquiry. I know define inquiry as finding information about a topic in order to use in a project. This use can be: better understanding the topic, learning new things about the topic, validating or disproving earlier assumptions, etc. This project helped change my definition of inquiry specifically in the example I used earlier about the dominance of the disease.
When looking at NF1, I originally just assumed that the disease was recessive. This was because all of the genetic disease I remembered were recessive, and I didn’t see a reason for NF1 to be different. When I actually looked into whether or not NF1 is recessive, I learned that the disease is dominant. I then immediately wondered how it could be. This was because none of our patient’s grandparents had NF1, but her mother did have NF1. I then remembered reading in my research that the mutation of the NF1 gene can be inherited or happen spontaneously. Our patient’s mother had a spontaneous mutation, and then passed it on to her daughter. Through this I learned that research not only helps you understand the topic you’re researching, but also can be used in a different context.
The final product of our project was a power point and a presentation. We used all the information we had gathered to give this presentation. Without asking questions, looking for answers, and trying to learn as much as we could about NF1 we wouldn’t have been capable or prepared to create a power point or give a presentation. This helped me grow in my understanding of how important inquiry is to a project.
As stated above, I believe that this project helped enhance my inquiry skills. It taught the value of asking questions, and also reinforced how important it is to gather all the information possible.
Another way my understanding of inquiry grew in this project was in asking questions. The main way I grew in this area was through doing an activity in which I had to ask questions about my patients. The only information I was given was what information I asked about. We had to think about what was important for our patient. For example, because our patient was having seizures, I asked for a scan of her brain. Because I asked about her brain, I learned that there wasn’t something directly related to the brain. This led me to looking for other causes, eventually leading to Neurofibromatosis.
After my questions were answered, I noticed that some of the questions I asked overlapped or were asking the same thing. I then went back and added questions that I should’ve asked instead of some of the questions I asked. This taught me how to think through what I’m asking, and learn how to ask questions that will give the most information.
Being able to asking specific questions that will give you the most information possible can be a very valuable skill to have. Asking questions is an aspect of inquiry. As talked about in the previous paragraph, this project definitely helped develop my question asking skills. In turn, it helped improve my skills using inquiry.
In this project I learned a lot about cells, mutations, and traits. I learned that just a small change in the DNA sequence can have massive repercussions. I learned that DNA codes for proteins, which then do a job for the body. When there is a change or mutation in the DNA sequence this change can be seen on the gene level, protein level, cell level, and trait level. This means that the change in the DNA also changes the gene, which changes the protein, which changes the cell, which finally changes the trait or physical feature. The coding is called a genotype, the physical feature is called the phenotype.
I also learned a lot about NF1. NF1 is caused by a mutation on chromosome 17. This changes the protein, neurofibromatin, which controls cell growth. This means that the protein is no longer produced or doesn’t work correctly. This causes uncontrolled cell growth. This uncontrolled cell growth can cause many problems such as seizures.
The biggest challenge I faced in this project was understanding my disease. It wasn’t that there was a problem in the information that I needed to solve, it just required a lot of work to understand all I needed to about NF1. I was challenged not only because there was just a lot to do, but also because much of the information was new to me. Before this project I had never even heard of NF1, let alone how to diagnose or treat it. It took me a while to understand all the things the animations were telling about the disease, but I was able to finally understand important things about NF1
I overcame this challenge simply by being persistent in my learning/research and asking questions when I didn’t understand something. One of the best moments of the project for me was discovering that NF1 was dominant. I was able to connect information from my research to the actual situation. For me, that made all the research I had done and all the time I had spent learning about this disease worth it.
The biggest thing I learned from this project is that mutations can cause many problems. Just one error in the DNA can cause massive problems in the body. The different types of mutations are deletions, substitutions, and insertions. A deletion is when a chemical letter or letters are not in the DNA sequence. A substitution is when one or more chemical letters are replaced with different chemicals. An insertion is when extra chemical letters are inserted into the DNA sequence. Before this project I didn’t know that there were different types of mutations. All I knew was that mutations are bad and cause bad things to happen in the body.
