Having reached the end of my DAAD-RISE internship, I can now reflect on one of the best, most educative, summers of my life. To provide a quick background, I spent the past three months researching human genetics at the Universitätsklinikumin Erlangen, a small Franconian city just north of Nuremberg.
A typical day in Erlangen started in much the same way as it would back home. I’d wake up to my alarm clock blaring, take a shower, and eat breakfast. Then I’d trek five minutes down the road from my shared flat to my lab in the Universitätsklinikum. After greeting and talking a bit with my lab mates in “the big lab” downstairs, I’d go talk to my supervising PhD student. We would talk a bit about any results from the previous day and about what I’d do that day and that week. As the summer progressed, these meetings still happened every day, but oftentimes I started on my own as I became more independent and confident in the lab protocols.
Communication was heavily emphasized in my group, and my interactions with the people in my building did not stop with my supervisor. I often discussed my research, or random things outside of science, with the people in my building, be it in the hallway, lab, cafeteria, or weekly lab meeting. I had previous international research experience in Stockholm, Sweden, and worked in a very international group. In contrast, my group in Erlangen was entirely German, many of whom from Franconia. Nevertheless, I hardly encountered any language barrier, and learned many new German words and phrases, from everyday useful terms to niche idioms. Sharing my culture and learning about Germany’s culture with my coworkers was one of my favorite parts of the summer.
My work in the lab focused on uncovering the genetic bases of Börjeson-Forssman-Lehmann syndrome(BFLS), a rare and severe neurodevelopmental disorder. To learn more about the causes of BFLS, I looked at five distinct mutations, in both female and male patients, of PHF6, a protein complex with a variety of roles in the cell. With these mutations, I investigated how defects in the protein affect protein localization within the cell and transcriptional regulation, which is important in the process of turning our genetic material into the proteins that make up our bodies. My characterization of these five mutations, as well as previous and future work in the Zweier Lab, contributes to a better understanding of BFLS. Eventually this untreatable syndrome may become treatable or preventable.
Outside of the lab, I also had a great learning experience in Europe. I was able to visit seven different countries, embrace new languages and cultures, and learn more about the type of place I want to live in after Penn State. Each time I come back from an experience that expands my worldview, like this internship in Germany and previous internships in Stockholm and Washington D.C., I’m happy to get back to familiarity but eager to find another opportunity to learn more about the world. I’m grateful for the PLA’s support in helping make this most recent one a possibility.