Trainee Author: Christoph Nowak, BM BCh(Oxon.), Dipl.-Psych.
This paper provides novel insights into the role of protein biomarkers on insulin resistance, highlighting the important discovery potential of biomarkers in understanding complex diseases. Using two large cohorts, Nowak et al. identified 7 protein biomarkers for insulin resistance, including one novel biomarker cathepsin D involved in intracellular protein turnover and extracellular matrix break down.
Beyond identifying biomarkers, the authors perform analyses to understand mechanisms linking biomarkers with insulin resistance. Using a Mendelian randomization test, they demonstrate a causal effect of insulin resistance on tissue plasminogen activator concentrations, providing new insight into the observed increased risk of cardiovascular disease in the diabetic population.
ASHG: Could you describe your research for us?
Mr. Nowak: I mainly work on the discovery and functional validation of biomarkers for insulin sensitivity and type 2 diabetes using genomic, proteomic, and metabolomic platforms as well as biostatistical approaches like Mendelian randomization analysis in large human cohorts. I enjoy the privilege of combining my epidemiologic research with hands-on cell culture experiments to explore the (patho)physiologic implications of candidate molecules in model organisms. Although inevitably more time-consuming, attempting to validate mere statistical findings in actual live physiology is tremendously rewarding.
ASHG: What are your career goals?
Mr. Nowak: The combination of “big data”-driven large human cohort resources, both horizontally (i.e. across cultures, countries, and demographics) and vertically (i.e. combing multiple –omics methods with in-depth phenotyping), are goals I aim to pursue in the future. I want to continue working at the junction between epidemiologic and experimental research because I believe that truly impactful findings in the field of genetics integrate the discovery, replication, and functional validation of findings.
Ultimately, I would love for my research to contribute to our understanding of (ab)normal physiology and to help improve population health.
ASHG: Why did you choose genetics as your field of study?
Mr. Nowak: Genetics and molecular epidemiology offer recent bioinformatics developments and large international cohort consortia, and the emerging focus on “big data” resources offers huge potential for improving the prevention and treatment of common diseases. Genetics also relies on the collaboration of a diverse range of bioinformaticians, clinicians, laboratory scientists, and policy makers.
The rapid pace of the field and the many emerging opportunities for insights, genetic modification, and personalized medicine pose important ethical and practical challenges that are fascinating to work on. Finally, the methods used in genetics can be beneficially applied to virtually any area of health and disease, including communicable as well as non-communicable pathologies.
ASHG: Describe yourself in three words.
Mr. Nowak: Focused, broad-minded, interested.