Kevin Bruemmer (Stanford University), a recipient of a 2020 Young Investigator Award, tells us more why he’s focused on NF research and the special connection he has to the Children’s Tumor Foundation.
Tell us about life in a research lab. What's a typical day look like?
Chemical biology labs are a unique space where researchers perform chemical synthesis, biochemical experiments, protein synthesis, cell culture, and instrumental analysis all under the same roof to investigate how chemistry affects biological processes. No two days in the lab are the same, as we allow our hypotheses to guide our experimental plan rather than become an expert at performing a specific type of research. Since biological experiments tend to take longer to complete than chemical reactions, often the beginning of the day is setting up protein expression bacterial culture or cell experiment, and then performing chemical synthesis.
What are you hoping to learn from this project?
NF1 is a disease that results from mutations in the protein neurofibromin, which directly controls the ability of cells to regulate cell growth by acting as a checkpoint for a series of kinase reactions. Kinases place small phosphate chemical modifications, called phosphorylation, on proteins to activate them and initiate cell growth. When neurofibromin is mutated and not functioning properly, too much kinase activity results in unregulated cell growth and tumor formation. The cell also uses sugar chemical modifications, called glycosylation, at the same sites of phosphorylation to turn off kinase activity and regulate cell growth. I am hoping to learn where the cell places glycosylation marks on key proteins in cell growth pathways to study how phosphorylation/glycosylation interplay leads to tumor development. There is little known about the role of glycosylation in NF1, and I am hoping my project will find new biological mechanisms to explain disease progression.
What are your long-term research goals?
My long-term research goals are to lead a laboratory focused on using chemical biology methods to learn new things about rare and understudied diseases. While funding opportunities and overall population need drives most research toward investigating common diseases, especially important during the Covid-19 global pandemic, I would like to focus my independent research on addressing less common diseases such as NF1. Foundations like Children's Tumor Foundation are critical in allowing scientists to pursue new ideas and therapeutic opportunities to help patients with rare diseases.
Have you read any papers or attended any webinars/virtual conferences recently that have informed your NF research? Or were particularly interesting?
I recently read YIA recipient Michelle Wegscheid's paper in Stem Cell Reports, which is a very important contribution to the field in addressing how different mutations of neurofibromin all lead to increased RAS activity. Her isolated cell lines from patients will be very important models for the field. I also attended the CTF virtual NF Conference that was an excellent way to become familiar with people in the field, and I hope next year we can all meet in person.
What does it mean to you to receive this funding from CTF?
I first became aware of neurofibromatosis after a family friend's daughter passed away from NF2 at the age of two. My family became involved in raising money for CTF to end NF, especially my dad who would run triathlons in a CTF jersey to raise awareness and contributions. After my dad unexpectedly passed away during my second year of graduate school, I wanted to continue his legacy by using my scientific skills to contribute towards ending NF through my research. CTF funding allows me to realize my ideas for investigating NF as I begin my postdoc in Prof. Carolyn Bertozzi's lab at Stanford. I know the hard work and effort it takes for volunteers like my dad to raise money for CTF, and I am so grateful to be on the receiving end to directly contribute in the fight to end NF.
What brought you to the NF research field?
Statement above reflects why I became interested in NF research. My graduate work was not related to NF, so I really wanted to use my transition to my postdoctoral fellowship to contribute to NF research. CTF funding has really allowed me the freedom and confidence to start my research plan at the beginning of my postdoc.
What do you like to do when you're not in the lab?
I like to hike, go to concerts, watch movies, and spend time with my wife, Brianna. I am a huge San Francisco Giants baseball fan and enjoy attending games.
For more information about funding opportunities from the Children’s Tumor Foundation, click here.
