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.

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 II

At IGM, Iftekhar leads translational research efforts for two human genetics protocols focused on rare diseases (PI: Daniel Koboldt) and congenital craniofacial malformations (PI: Rolf Stottmann), respectively. He earned his PhD in molecular, cellular and developmental biology from The Ohio State University under the mentorship of Dr. Lessnick at Nationwide Children's. His doctoral research focused on understanding the epigenetic contributions of EWS::FLI in driving oncogenesis in Ewing sarcoma.

He is particularly interested in variant interpretation and the integration of contemporary genomic approaches, such as long-range sequencing, transcriptomics and epigenetic profiling to facilitate the discovery and/or validation of variants that may evade detection by traditional short-read sequencing methods.

In addition to his role within the Biomedical Interpretation and Training group, Iftekhar holds a joint appointment in the Stottmann Laboratory, where he developed a variant annotation pipeline to facilitate variant discovery and prioritization in ENU-mutagenized mouse models.

Shayne M. Plourde, PhD
Bioinformatics Scientist II

Shayne Plourde, PhD, is a bioinformatics scientist II on the Biomedical Interpretation & Training (BIT) Team. He specializes in rare disease genomics, genomic reanalysis, structural variant interpretation and scientific software development. His work focuses on the analysis and interpretation of genomic data from translational research studies to identify the genetic causes of rare diseases and other pediatric conditions.

In addition to rare disease case analysis, he develops bioinformatics tools and analytical workflows that support genome interpretation and gene discovery. He is the lead developer of VaNex, a platform for genomic variant analysis, and has developed novel approaches for structural variant and non-coding RNA variant discovery that have enabled diagnoses in previously unsolved rare disease cases.

He earned his bachelor's degree in mathematics from the University of Maine and both his Master of Mathematical Biosciences and PhD in molecular, cellular and developmental biology from The Ohio State University.

Anupama Rao, PhD
Post-doctoral Scientist

Anupama serves as a variant interpretation scientist focused on rare disease genomics on the Biomedical Interpretation & Training Team. She leads an epilepsy-focused interpretation program and contributes to the development, optimization and implementation of genomic analysis workflows for variant identification, prioritization and interpretation. She has also played a key role in adopting and expanding RNA sequencing-based diagnostic approaches within the rare disease cohort, leveraging transcriptomic data to uncover pathogenic mechanisms and increase diagnostic yield.

Anu earned her bachelor's and master's degrees in biotechnology from the University of Pune, India, before pursuing a PhD in molecular, cellular and developmental biology at The Ohio State University. During her doctoral training, she studied cardiac regeneration using zebrafish as a model organism. She subsequently specialized in cardiovascular genetics and congenital heart disease as an NIH T32 postdoctoral fellow before joining Dan Koboldt's team.

Outside the lab, Anu enjoys running, hiking, building her dream home library and spending time with her cat, HRH Dr. Princess Donut.

Maggie Payne
Research Intern

Maggie is a research intern on the Biomedical Interpretation & Training Team. Much of her time at IGM has been dedicated to learning about RNA sequencing analysis in rare pediatric conditions, as well as creating, organizing and updating local resources. Maggie is in her fourth undergraduate year at The Ohio State University, majoring in molecular genetics and minoring in clinical psychology. After she graduates, she hopes to attend a genetic counseling program to pursue a career as a genetic counselor.