My name is Hazel Thomas and I am doing an internship at the Eichler genetics lab at the University of Washington under Madelyn Gillentine, a research scientist at the lab. Genetics is a fairly new field that still has room to grow and become more developed. I became interested in genetics when I was diagnosed with a rare genetic disorder known as Osteogenesis Imperfecta(OI). I’ve always had an interest in the medical field, but my journey with OI helped me realize that genetic research is my calling. Originally I was going to spend 8 weeks in Seattle working in the Eichler lab, but due to Covid-19, we switched to an online-based internship. I am so grateful to Pinhead for finding me this internship and Maddie for continuing to work with me.
This week I started off with a virtual meeting with Maddie where we discussed plans for my internship. Together, Maddie and I decided that my main focus will be the COL1A1 and COL1A2 pathogenic variants. These two gene variants are responsible for 90% of patients that have OI. I will spend most of my time for the first couple of weeks doing a literature review where I will read papers and write-ups so I can learn important vocabulary, useful databases, and research paper writing techniques and styles. Some of the databases that I will be using are PubMed, ProQuest, and Google Scholar reviews, and papers published through the University of Washington. My internship will be an intersection of research and my personal connection because most of what I will be doing will be related directly to OI.
I spent most of my time exploring these databases and familiarizing myself with them. I chose a couple of the papers from PubMed that are about the COL1A1/2 mutation to begin reading. Many of the words used in the papers are higher-level scientific vocabulary, so I ended up doing some vocabulary research to help me better understand the papers.
PubMed database screenshot
Outside of my internship, I spent the week with my family. I watched a couple of movies and worked on some paintings. I also went camping over the weekend at Boggy Draw with my dad. We went biking, golfing, and we took our stand up paddleboards out on McPhee reservoir.
Our car ready to camp
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