Meet Our Team

Daniel C. Koboldt, MS
Principal Investigator

Dan Koboldt is a Principal Investigator at the Institute for Genomic Medicine at Nationwide Children's Hospital, and a Research Assistant Professor of Pediatrics at The Ohio State University. He is a member of the Digital Learning Committee for the American Society of Human Genetics (ASHG), and a volunteer on multiple ClinGen Variant Curation Expert Panels.

Previously, he worked as a staff scientist for the Genome Institute at Washington University, where he contributed to high-profile projects including the first cancer genome (AML1), the Cancer Genome Atlas, the 1,000 Genomes Project, and the Alzheimer's Disease Sequencing Project.

He is the developer of VarScan, a widely-used somatic mutation caller for next-generation sequencing data, and MendelScan, a variant prioritization and disease gene mapping tool for family-based sequencing studies of inherited disease.

At Nationwide Children’s, his group specializes in developing tools for the analysis and interpretation of next-generation sequencing data, particularly as applied to study rare genetic diseases in children. He is the principal investigator or a co-investigator for several translational research studies in the areas of Mendelian disorders, congenital heart disease, treatment-resistant epilepsy, congenital malformations, and other conditions.

Mohammad Marhabaie, PhD
Postdoctoral Scientist

Mohammad Marhabaie is a Senior Bioinformatics Scientist in Koboldt lab. His primary interests and responsibilities in the team are developing tools and pipelines to analyze human genetics and genomics data. He earned his B.S. in biology from the University of Isfahan in Iran, M.S. in biological science from the University of Akron in Ohio, and Ph.D. in molecular genetics from the Ohio State University. Concurrent with his undergraduate studies, he completed a three-year IT program in computer science and programming at the Aptech Computer Education Institute.

With a strong background in computer science and a deep passion for biology, he is a skilled bioinformatician who has published research studies on a broad spectrum of biological topics, including spider taxonomy, spider silk biomechanics and evolution, developmental biology, RNA-binding proteins and RNA biology, rare diseases, genomics, and human genetics.

Umamaheswaran Gurusamy, PhD
Research Scientist

Umamaheswaran Gurusamy, PhD, is a Staff Research Scientist in the Koboldt lab, where he supports genomic data analysis for translational research in behavioral health genomics and congenital heart disease. Originally from Pondicherry, India, he earned a BS in microbiology from the University of Madras, an MS in biotechnology from Bharathidasan University, and a PhD in Pharmacology from JIPMER, identifying a pharmacogenetic marker for letrozole in HR+ breast cancer. He received Junior and Senior Research Fellowships from DBT and ICMR, India, and conducted pharmacogenetic investigations on various drugs.

Dr. Gurusamy completed postdoctoral studies at Linköping University, Sweden, focusing on colorectal and breast cancer genomics, and at UCSF, where he researched complex genomic regions using optical genome mapping. His interests include OGM, PGx, and developing algorithms for integrating pharmacogenetic markers in pediatric cancer, CHD, and behavioral health disorders. In his free time, Uma enjoys cooking, playing soccer, and spending time with his kids.

Iftekhar Showpnil, PhD
Bioinformatics Analyst

Iftekhar completed his doctorate with Dr. Stephen Lessnick in the Center for Childhood Cancer, Nationwide Children's Hospital, as part of the Molecular, Cellular and Developmental Biology Graduate Program at The Ohio State University. During his PhD, he analyzed and interpreted genomic and epigenetic datasets, including Hi-C, 4C, CUT&TAG, ChIP-seq, ATAC-seq and RNA-seq, to uncover the mechanisms of chromatin organization and transcriptional regulation in Ewing sarcoma. Following his graduate studies, Iftekhar joined the Stottmann Lab at the Institute for Genomic Medicine (IGM) to oversee variant analysis for the Congenital Craniofacial Malformations human genetics research protocol under Dr. Rolf Stottmann.

His work with the Biomedical Interpretation and Training group involves routine analysis of genomic and transcriptomic data (WES, WGS and RNA-seq) to identify disease causing variant(s) in patient families enrolled in various human genetics research protocols at IGM involving rare diseases, congenital heart defects, epilepsy and neuromuscular abnormalities. He is particularly interested in novel technologies involving long-read sequencing and epigenetic profiling that facilitate the discovery and validation of novel variants often missed by conventional exome and genome sequencing methods.

Shayne Plourde, PhD
Post-doctoral Scientist

Shayne Plourde, PhD, is a postdoctoral scientist on the Biomedical Informatics & Training Team. In his role he supports the analysis of genomic data from translational research protocols to identify variants responsible for a patient’s condition. He is also involved with the development of tools and pipelines to help the team analyze cases. He earned his bachelor’s degree in mathematics with a computer science minor from the University of Maine, Orono. He then came to the Ohio State University to complete a master’s in Mathematical Biosciences and then a PhD in Molecular, Cellular, and Developmental Biology. He has also completed two data science bootcamps with The Erdos Institute, once as a TA. With a strong background in mathematics, computer modeling, and biology, he is a skilled scientist with first author publications in tumor microcalcification dynamics, pollen aperture formation with Turing reaction-diffusion dynamics, and 3 compartment ODE model of C. elegans centrosome maturation.

Ashton Holub, PhD
Post-doctoral Scientist

Ashton Holub, PhD, is a postdoctoral researcher in the Bedrosian lab investigating somatic mosaicism within the brain and the molecular mechanisms of epileptogenesis. He is particularly interested in the effects somatic mutations have on individual neuronal cell types. He is also a member of the Biomedical Interpretation & Training Team led by Dan Koboldt, analyzing and interpreting genomic data from multiple research protocols. Dr. Holub earned his bachelor’s degree in Biology from James Madison University and his doctorate in Molecular Genetics from The Ohio State University.