Molecular Mechanisms of TBCK Syndrome: Q&A With Diversity Fellow Kristen Navarro, PhD

Kristen Navarro, PhD, is a CHOP Diversity Fellow.

Editor's Note: Diversity and inclusion are critical drivers to our breakthroughs at Children's Hospital of Philadelphia Research Institute. Fostering a community of scientists from unique backgrounds and academic experiences enables collaboration to meet challenging pediatric problems from a variety of perspectives. In a Q&A series in the coming months, we're featuring four new scholars in the Postdoctoral Research Fellowship for Academic Diversity program at CHOP.

Applications for the next group of Diversity Fellows are due Jan. 30, 2024! Visit the Postdoctoral Research Fellowship for Academic Diversity page for complete eligibility requirements and application procedures. Submit your application via REDCap.

As a key part of CHOP's commitment to diversity, this fellowship funds talented researchers and educators from different backgrounds, races, ethnic groups, and other diverse populations. Join us to meet these fellows, learn more about their research interests, what diversity in science means to them, and how they enjoy spending their time outside of work. Our second featured Diversity Fellow is Kristen Navarro, PhD, a postdoctoral fellow in the lab of Elizabeth Bhoj, MD, PhD. Dr. Navarro studies molecular mechanisms behind TBCK syndrome.

What does diversity in research and science mean to you?

Diversity in research and science is the inclusion and representation of diverse and underrepresented backgrounds, which provides unique perspectives that enhance our ability to solve complex problems and advance the field's collective knowledge repertoire. It means not only having individuals from historically underrepresented in STEM backgrounds, but also providing the supportive framework necessary to retain scientists and scholars as they navigate the scientific field.

Increased representation and diversity also produce an intergenerational effect, where young scholars see successful scientists from their backgrounds and therefore feel more welcome to join the sciences and envision themselves in such roles.

Tell us about your background and what compelled you to apply for the Postdoctoral Research Fellowship for Academic Diversity.

Ever since I was a child, I was curious and loved science, but nobody in my family was a professional scientist. During my undergraduate career at Rochester Institute of Technology, I performed a senior research project under the mentorship of Bolaji Thomas, PhD, focused on studying how single nucleotide polymorphisms could affect how sickle cell disease symptoms develop in African vs. African American patients. This project fueled my passion for working with marginalized populations and discovering how genetics research can be used to address health disparities.

I then enrolled in the Postbaccalaureate Research Education Program (PREP) at Case Western Reserve University. PREP is an NIH-funded program designed to help underrepresented scholars prepare for graduate school in science, technology, engineering, and medicine (STEM). I worked in the lab of Paul Tesar, PhD, and my project examined the causes of defective oligodendrocytes, a cell that protects neurons by wrapping myelin around their long axons, and their development and structure in pediatric Pelizaeus-Merzbacher Disease. This experience introduced me to the diverse field of pediatric genetic disorder research.

I joined the Molecular Genetics doctoral program at The Ohio State University. My graduate work focused on how TMED proteins are involved in embryonic and adult development using the nematode Caenorhabditis elegans model in the laboratory of Helen Chamberlin, PhD. I showed that C. elegans TMED mutants presented with abnormal behavior, organ development, and survival. These findings helped me comprehend how studying invertebrates can provide a basis for research projects addressing human health.

For my postdoctoral career, I wanted to transition from studying protein secretion in a basic science lab to a lab that was more focused on translational and human health-related sciences. I am excited for the opportunity to develop my human health-related research skills in pediatric health disparities, which led me to apply to the Research Fellowship for Academic Diversity at CHOP. Under the mentorship of Dr. Bhoj, this fellowship will support my professional goal of pursuing a tenure-track faculty position in pediatric psychology and academic medicine.

What are some research projects that you're excited about?

I am most excited about my research project investigating the molecular mechanisms behind TBCK syndrome, a pediatric neurodegenerative disease caused by mutations in the TBCK gene. This project interests me because it is extremely difficult to treat neurodegenerative disorders due to the blood-brain barrier. In addition, it can be difficult for families with children who have rare pediatric genetic disorders to receive answers and support due to the rarity of genetic disorders. Despite these setbacks, studying the mechanisms behind pediatric neurogenetic disorders will not only broaden the specific field and lead to development of new treatments, but can also be used to inspire creation of new projects for adult neurodegenerative disorders.

What inspired you to choose your research focus, and what do you aim to achieve with your research?

I have always been passionate about increasing accessibility to quality healthcare among marginalized populations. The research projects I have worked on have solidified this passion and have made me committed to addressing health disparities in marginalized rare disease patients. I hope to identify the root causes behind symptoms of pediatric neurodegenerative diseases to develop clinically relevant therapeutics and targeted therapies.

What do you do for fun when you're not working?

I have a pet cat named Caramel that I've been caring for since my third year of grad school. I also love watching theater shows and going to museums.