Precision Healthcare through DNA and RNA: Moving from Reactive Medicine to Predictive
Imagine sitting at the doctors, waiting to find out why you are not feeling well. Test after test, there often is not an answer. A few years back, Jeremy went through this exact struggle, waking up in the morning with incredible sore wrists, fingers, and other joints. As it got worse, the doctors thought one thing after another. Finally, after multiple visits, they realized it was psoriatic arthritis.
Getting into Precision Medicine seems easy, but tools for clinicians to use have been slow in development. When Jeremy joined the lab of Howard Jacob, whose lab was featured in One in a Billion: The Story of Nic Volker and the Dawn of Genomic Medicine, he realized how unfair the healthcare system is based on luck. Families with kids having rare disorders often spend millions of dollars trying to find out the cause of disease. Therefore, he began moving into using the DNA and RNA from individuals to understand disease risks and develop better tools to diagnose, understand, and potentially treat disease. Most labs take on studying only a single disease, leaving many diseases poorly studied and not fully appreciating how diseases are similar and different. The Prokop lab strives to understand any disease and why they happen, with the hopes of one day predicting adverse outcomes before they ever manifest.
Moving Genomics to Mechanism
The Prokop lab focuses on integrative biosciences for understanding genes and genetic variants, utilizing computational tools to generate testable hypotheses for genomic variants (coding and noncoding) and protein function that are then used to guide wet lab experiments into disease mechanisms and pharmacological intervention. The Prokop lab’s NIH Big Data to Knowledge funded computational tools (BD2K- K01ES025435) focus on deep evolutionary analysis of codon usage combined with protein modeling and molecular dynamic simulations to study the role of genetic variants from whole genome sequencing and GWAS linkage disequilibrium blocks. Variants/proteins are then studied in the lab using a combination of protein biophysics, cell culture (including primary cells and induced pluripotent stem cells), gene regulation, and genomic technologies. The combination of genetic mechanisms for both common and rare disease genetics for a broad spectrum of disorders allows for a more global view of transcriptional regulation involved in disease, gene evolution, disease intersections, a more robust model of genotype-to-phenotype predictions, and hopefully a more patient based treatment strategy. These tools have been successfully applied to genomic insights for chronic kidney disease (PMID: 29476007), mesothelioma (PMID: 29284740), obesity (PMID: 29193816), neurological diseases (PMID: 27830187), cancer metastasis (PMID: 25762439), and genetics of sex differences (PMID: 26848384) to name a few. Additionally, the Prokop lab is interested in the development of educational tools that can be applied to clinical genomics and the creation of research opportunities for students at universities and colleges classically disadvantaged for research experience through the use of cloud based bioinformatics and data basing.
How can we help you
If you would like an assessment of genomic variants, please reach out to our lab to discuss collaborations.