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Deborah Ritter

Deborah Ritter

Instructor, Texas Children's Hospital, Department of Pediatrics-Oncology
My overarching research interest is to apply genome sequencing analysis and biocuration to identify and understand the impact of genes and variants on human disease. As a graduate student at Boston College (2006-2011), I used evolutionary sequence analysis to identify conserved developmental regulatory sequences in zebrafish. As a postdoc at Baylor College of Medicine (BCM), I was awarded a NIH Institutional Research and Career Development Award (IRACDA) fellowship (2012-2015), which combined training in science education with advanced genomics research. I learned next-generation sequencing analysis of human genomes through the laboratory of Dr. David Wheeler at the Human Genome Sequencing Center (HGSC). There, I collaborated with Dr. Sharon Plon on analysis of inherited cancers and structural variation. Following my IRACDA fellowship, I became a staff scientist (2015-2021) and then an Instructor (2021-) at BCM for The Clinical Genome Resource (ClinGen), a multi-center initiative to curate clinically relevant human genome variation. Working with ClinGen I apply bioinformatics analysis to curation, and have developed national leadership and collaborative agendas in biocuration and education. I currently serve as a program manager for the BCM/Stanford team in ClinGen, as the coordinator for the Hereditary Cancer Clinical Domain and am actively involved in multiple Working Groups and Expert Panels: Structural Variation and Dosage Sensitivity, Ancestry and Diversity, Somatic Cancer, Germline/Somatic, Education and VHL, DICER1 and TP53 Variant Curation Expert Panels.

The IRACDA award cultivated a long-term social goal to prioritize science education and continually seek opportunities for outreach and enhancing diversity in science. I focused on outreach and diversity in sciences, developing a hybrid bioinformatics course at Prairie View A&M University. I developed and taught a "Bioinformatics Bootcamp'' for undergraduates in diversity programs with BCM, and have since worked with multiple programs for underserved students and faculty.