February 22, 2020

Predicting mutation and disease occurrence from DNA and omics data

Presented by Kateryna Makova

Francis R. and Helen M. Pentz Professor, Department of Biology, Penn State

With affordable DNA sequencing, information on mutations in an individual’s genome is readily available. Kateryna Makova will present how mutation frequency depends on gender, age, and DNA location. Statistical models explaining and predicting mutation occurrence and applications to pregnancy planning and genetic counseling will be discussed. Mutations can cause numerous human genetic diseases but are only one contributor to the probability of disease development for an individual. Also, we now can generate microbiomics, metabolomics, epigenomics, and viromics data. Analysis of these omics data may help us understand the patterns of disease occurrence. As an example, the analysis of various omics data sets related to childhood obesity will be covered.

A native of Ukraine, Kateryna Makova obtained her PhD degree from Texas Tech University, where she studied the genetic consequences of the Chernobyl Nuclear Power Plant accident. She completed her postdoctoral studies at the University of Chicago, where she investigated differences in mutation rates between males and females, among other topics. She has been a professor at the Penn State Department of Biology since 2003. Her laboratory conducts research in evolutionary and medical genomics. Current topics of interest include mitochondrial mutations, regional variation in mutation rates, sex chromosome evolution, and childhood obesity. The research in Makova’s laboratory is highly interdisciplinary and collaborative. The group collaborates with statisticians, computer scientists, and biochemists. During her career, Makova has mentored 15 PhD students and 9 postdoctoral fellows, has authored almost 100 scientific manuscripts. She currently directs the Center for Medical Genomics, which brings together researchers from the University Park and Hershey campuses. She served on the Council of the International Society of Molecular Biology and Evolution, and currently serves on the Board of Scientific Counselors to the National Library of Medicine, the National Institutes of Health, as well as on the editorial boards of two scientific journals—Genome Research and Genome Biology and Evolution.