I started off this week doing a Zoom call with my mentor, Maddie. We talked about my projects for the week and I asked her some questions that I had the previous week. She talked me through some of the common terminology used in genetic research papers. For example, “de novo” was a common phrase repeated in many of the papers. A de novo mutation, or a “new mutation,” is a genetic mutation that appears in a patient with no family history of the mutation. This type of genetic mutation appears during early embryogenesis, when the embryo is formed and develops. We then discussed how some types of Osteogenesis Imperfecta are more likely to be caused by a de novo mutation than others. For example, I have type I OI which in most cases is inherited as autosomal dominant traits (from one parent). On the other hand, type II often occurs with no previous family history (de novo).
Moving on to my assignments for the week, I continued to read articles from PubMed, ProQuest, and some other sources that have papers addressing the COL1A1/2 gene mutation. This week I also started putting together a table where I can keep track of the patients that I read about. Each paper references the patients that were used in their study and they give data on each patient. By compiling this data you can compare their mutations and try to understand why some gene mutations are more severe than others.
The start of my patient table
I will also be writing a summary paper at the end of my internship that reviews the papers I studied. My introduction will be to explain why I am interested in this particular gene mutation and how I found my resources. I will then review the process of collagen development and where and why different mutations happen for the different types of OI. I will use the data that I gathered from my “patients” to back up the information in my paper. This paper will be my largest project for my internship since I will be working on it throughout my internship as I compile the information that I research.
Outside of my internship, I started working again this week at the town public pool. This kept me pretty busy, but I went for a couple of bike rides and spent Friday and Sunday night celebrating the Annual Bluegrass Festival that takes place in Telluride. This year would have been my 18th consecutive year at the festival. Due to Covid-19, it had to be canceled, so I spent it listening to bluegrass music and playing frisbee with some friends.
The sunset from Town Park where we played frisbee
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